Xp22.3 interstitial deletion: A recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation
X-linked ichthyosis is a genetic disorder affecting the skin and caused by a deficit in the steroid sulfatase enzyme (STS), often associated with a recurrent microdeletion at Xp22.31. Most of the STS deleted patients have X-linked ichthyosis as the only clinical feature and it is believed that patie...
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Published in | Gene Vol. 527; no. 2; pp. 578 - 583 |
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Main Authors | , , , , , , , |
Format | Journal Article |
Language | English |
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Elsevier B.V
25.09.2013
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Abstract | X-linked ichthyosis is a genetic disorder affecting the skin and caused by a deficit in the steroid sulfatase enzyme (STS), often associated with a recurrent microdeletion at Xp22.31. Most of the STS deleted patients have X-linked ichthyosis as the only clinical feature and it is believed that patients with more complex disorders including mental retardation could be present as a result of contiguous gene deletion. In fact, VCX3A gene, a member of the VCX (variable charge, X chromosome) gene family, was previously proposed as the candidate gene for X-linked non-specific mental retardation in patients with X-linked ichthyosis.
We report on a boy with familial ichthyosis, dysmorphic features and moderate mental retardation with approximately 2Mb interstitial deletion on Xp22.3 involving VCX3A and STS genes.
•We report on a boy suffering from X-linked ichthyosis and mental retardation.•The CGH array reveals an interstitial deletion at Xp22.3.•Maternal inheritance of the deleted copy of the STS gene.•The VCX3A gene could be a plausible gene responsible for mental retardation. |
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AbstractList | X-linked ichthyosis is a genetic disorder affecting the skin and caused by a deficit in the steroid sulfatase enzyme (STS), often associated with a recurrent microdeletion at Xp22.31. Most of the STS deleted patients have X-linked ichthyosis as the only clinical feature and it is believed that patients with more complex disorders including mental retardation could be present as a result of contiguous gene deletion. In fact, VCX3A gene, a member of the VCX (variable charge, X chromosome) gene family, was previously proposed as the candidate gene for X-linked non-specific mental retardation in patients with X-linked ichthyosis. We report on a boy with familial ichthyosis, dysmorphic features and moderate mental retardation with approximately 2 Mb interstitial deletion on Xp22.3 involving VCX3A and STS genes. X-linked ichthyosis is a genetic disorder affecting the skin and caused by a deficit in the steroid sulfatase enzyme (STS), often associated with a recurrent microdeletion at Xp22.31. Most of the STS deleted patients have X-linked ichthyosis as the only clinical feature and it is believed that patients with more complex disorders including mental retardation could be present as a result of contiguous gene deletion. In fact, VCX3A gene, a member of the VCX (variable charge, X chromosome) gene family, was previously proposed as the candidate gene for X-linked non-specific mental retardation in patients with X-linked ichthyosis. We report on a boy with familial ichthyosis, dysmorphic features and moderate mental retardation with approximately 2Mb interstitial deletion on Xp22.3 involving VCX3A and STS genes. •We report on a boy suffering from X-linked ichthyosis and mental retardation.•The CGH array reveals an interstitial deletion at Xp22.3.•Maternal inheritance of the deleted copy of the STS gene.•The VCX3A gene could be a plausible gene responsible for mental retardation. X-linked ichthyosis is a genetic disorder affecting the skin and caused by a deficit in the steroid sulfatase enzyme (STS), often associated with a recurrent microdeletion at Xp22.31. Most of the STS deleted patients have X-linked ichthyosis as the only clinical feature and it is believed that patients with more complex disorders including mental retardation could be present as a result of contiguous gene deletion. In fact, VCX3A gene, a member of the VCX (variable charge, X chromosome) gene family, was previously proposed as the candidate gene for X-linked non-specific mental retardation in patients with X-linked ichthyosis. We report on a boy with familial ichthyosis, dysmorphic features and moderate mental retardation with approximately 2Mb interstitial deletion on Xp22.3 involving VCX3A and STS genes. |
Author | Mougou-Zerelli, Soumaya Soyah, Najla Ben-Abdallah-Bouhjar, Inesse Elghezal, Hatem Saad, Ali Sanlaville, Damien Ben Khelifa, Hela Gritly, Ryma |
Author_xml | – sequence: 1 givenname: Hela surname: Ben Khelifa fullname: Ben Khelifa, Hela organization: Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia – sequence: 2 givenname: Najla surname: Soyah fullname: Soyah, Najla organization: Pediatric Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia – sequence: 3 givenname: Inesse surname: Ben-Abdallah-Bouhjar fullname: Ben-Abdallah-Bouhjar, Inesse organization: Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia – sequence: 4 givenname: Ryma surname: Gritly fullname: Gritly, Ryma organization: Psychriatric Department, Units for Research in Rehabilitation, Sousse, Tunisia – sequence: 5 givenname: Damien surname: Sanlaville fullname: Sanlaville, Damien organization: Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Lyon, France – sequence: 6 givenname: Hatem surname: Elghezal fullname: Elghezal, Hatem organization: Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia – sequence: 7 givenname: Ali surname: Saad fullname: Saad, Ali organization: Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia – sequence: 8 givenname: Soumaya surname: Mougou-Zerelli fullname: Mougou-Zerelli, Soumaya email: mougousoumaya@yahoo.fr organization: Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/23791652$$D View this record in MEDLINE/PubMed |
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Cites_doi | 10.1038/ng2092 10.1111/j.0013-9580.2003.61702.x 10.1086/379977 10.1086/303047 10.1111/j.1365-2133.2007.08373.x 10.1016/j.ejmg.2012.08.011 10.1016/j.jdermsci.2006.10.001 10.1093/hmg/ddi186 10.1016/j.ejmg.2010.01.004 10.1093/hmg/9.2.311 10.1038/nrm2849 10.1016/j.ejmg.2007.04.005 10.1016/S0140-6736(78)90005-3 10.1038/nrg1501 10.1016/0092-8674(90)90472-Q 10.1016/j.ejmg.2007.11.002 10.1093/hmg/ddi112 10.1002/ajmg.a.20231 10.1016/j.ejmg.2008.06.003 10.1136/jmg.38.3.145 10.1136/jmg.37.8.600 10.1073/pnas.86.24.10001 10.1136/jmg.2008.057729 10.1086/382137 10.1111/j.1365-2788.2006.00880.x 10.1098/rspb.1990.0129 |
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Keywords | ADHD STS deficiency FMR1 Whole genome analysis CNV VCX STS HDHD1A XLI KAL1 SHOX CGH array NAHR VCX3B VCX3A NLGN4X MR DAPI VCX2 XLMR Genomic rearrangements Mb ND FISH PNPLA4 neuroligin 4, X-linked nonallelic homologous recombination mental retardation copy number variation short stature homeobox patatin-like phospholipase domain containing 4 variable charge, X-linked 3A X-linked ichthyosis variable charge, X-linked 3B fragile X mental retardation 1 4,6 diamino-2-phenylindole not determined steroid sulfatase enzyme Kallmann syndrome 1 haloacid dehalogenase-like hydrolase domain-containing 1 comparative genomic hybridization variable charge, X-linked fluorescence in situ hybridization attention deficit-hyperactivity disorder variable charge, X-linked 2 X-linked mental retardation megabase |
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References | Vissers (bb0120) 2003; 73 Hosomi, Oiso, Fukai, Hanada, Fujita, Ishii (bb0045) 2007; 45 Lahn, Page (bb0055) 2000; 9 Shapiro, Weiss, Webster, France (bb0105) 1978; 14 Kent (bb0050) 2008; 45 Weisfeld-Adams, Edelmann, Gadi, Mehta (bb0125) 2012; 12 Cuevas-Covarrubias, Gonzalez-Huerta (bb0015) 2008; 158 Yen, Li, Tsai, Johnson, Mohandas, Shapiro (bb9000) 1990; 6 Li (bb1130) 2010; 53 De Vries (bb0020) 2001; 38 Sasaki, Lange, Keeney (bb0100) 2010; 3 Lonardo (bb0070) 2007; 4 Gohlke, Haug, Fukami, Friedl, Noeker, Rappold (bb0040) 2000; 37 Newman, Affara, Yates, Mitchell, Ferguson-Smith (bb0090) 1990; 242 Mochel, Missirian, Reynaud, Moncla (bb0085) 2008; 51 Doherty (bb0025) 2003; 12 Skuse (bb0110) 2005; 14 Esch (bb0030) 2005; 14 Ropers, Hamel (bb0095) 2005; 6 Mencarelli (bb0080) 2008; 5 Torres-Juan, Rosell, Sánchez-de-la-Torre, Fibla, Heine-Suñer (bb0115) 2007; 2 Lee, Iafrate, Brothman (bb0130) 2007; 39 Boycott, Parslow, Ross, Miller, Bech-Hansen, MacLeod (bb0010) 2003; 2 Laumonnier (bb0060) 2004; 74 Macarov (bb0075) 2007; 51 Fukami (bb0035) 2000; 67 Ballabio (bb0005) 1989; 86 Ropers (10.1016/j.gene.2013.06.018_bb0095) 2005; 6 Laumonnier (10.1016/j.gene.2013.06.018_bb0060) 2004; 74 Lee (10.1016/j.gene.2013.06.018_bb0130) 2007; 39 Newman (10.1016/j.gene.2013.06.018_bb0090) 1990; 242 Weisfeld-Adams (10.1016/j.gene.2013.06.018_bb0125) 2012; 12 Esch (10.1016/j.gene.2013.06.018_bb0030) 2005; 14 Lahn (10.1016/j.gene.2013.06.018_bb0055) 2000; 9 Fukami (10.1016/j.gene.2013.06.018_bb0035) 2000; 67 Mochel (10.1016/j.gene.2013.06.018_bb0085) 2008; 51 Doherty (10.1016/j.gene.2013.06.018_bb0025) 2003; 12 Cuevas-Covarrubias (10.1016/j.gene.2013.06.018_bb0015) 2008; 158 Vissers (10.1016/j.gene.2013.06.018_bb0120) 2003; 73 De Vries (10.1016/j.gene.2013.06.018_bb0020) 2001; 38 Yen (10.1016/j.gene.2013.06.018_bb9000) 1990; 6 Mencarelli (10.1016/j.gene.2013.06.018_bb0080) 2008; 5 Lonardo (10.1016/j.gene.2013.06.018_bb0070) 2007; 4 Macarov (10.1016/j.gene.2013.06.018_bb0075) 2007; 51 Shapiro (10.1016/j.gene.2013.06.018_bb0105) 1978; 14 Torres-Juan (10.1016/j.gene.2013.06.018_bb0115) 2007; 2 Li (10.1016/j.gene.2013.06.018_bb1130) 2010; 53 Sasaki (10.1016/j.gene.2013.06.018_bb0100) 2010; 3 Hosomi (10.1016/j.gene.2013.06.018_bb0045) 2007; 45 Gohlke (10.1016/j.gene.2013.06.018_bb0040) 2000; 37 Kent (10.1016/j.gene.2013.06.018_bb0050) 2008; 45 Skuse (10.1016/j.gene.2013.06.018_bb0110) 2005; 14 Ballabio (10.1016/j.gene.2013.06.018_bb0005) 1989; 86 Boycott (10.1016/j.gene.2013.06.018_bb0010) 2003; 2 |
References_xml | – volume: 14 start-page: 1795 year: 2005 end-page: 1803 ident: bb0030 article-title: Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis publication-title: Hum. Mol. Genet. contributor: fullname: Esch – volume: 51 start-page: 329 year: 2007 end-page: 333 ident: bb0075 article-title: Deletions of VCX-A and NLGN4: a variable phenotype including normal intellect publication-title: J. Intellect. Disabil. Res. contributor: fullname: Macarov – volume: 67 start-page: 563 year: 2000 end-page: 573 ident: bb0035 article-title: A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation publication-title: Am. J. Hum. Genet. contributor: fullname: Fukami – volume: 12 start-page: 1529 year: 2003 end-page: 1535 ident: bb0025 article-title: An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits publication-title: Epilepsia contributor: fullname: Doherty – volume: 9 start-page: 311 year: 2000 end-page: 319 ident: bb0055 article-title: A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins publication-title: Hum. Mol. Genet. contributor: fullname: Page – volume: 51 start-page: 68 year: 2008 end-page: 73 ident: bb0085 article-title: Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes publication-title: Eur. J. Med. Genet. contributor: fullname: Moncla – volume: 5 start-page: 409 year: 2008 end-page: 416 ident: bb0080 article-title: Private inherited microdeletion/microduplications: implications in clinical practice publication-title: Eur. J. Med. Genet. contributor: fullname: Mencarelli – volume: 14 start-page: R27 year: 2005 end-page: R32 ident: bb0110 article-title: X-linked genes and mental functioning publication-title: Hum. Mol. Genet. contributor: fullname: Skuse – volume: 14 start-page: 70 year: 1978 end-page: 72 ident: bb0105 article-title: X-linked ichthyosis due to steroid-sulphatase deficiency publication-title: Lancet contributor: fullname: France – volume: 38 start-page: 145 year: 2001 end-page: 150 ident: bb0020 article-title: Clinical studies on submicroscopic, subtelomeric rearrangements: some clinical guidelines publication-title: J. Med. Genet. contributor: fullname: De Vries – volume: 6 start-page: 603 year: 1990 end-page: 610 ident: bb9000 article-title: Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements publication-title: Cell contributor: fullname: Shapiro – volume: 158 start-page: 483 year: 2008 end-page: 486 ident: bb0015 article-title: Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosis publication-title: Br. J. Dermatol. contributor: fullname: Gonzalez-Huerta – volume: 37 start-page: 600 year: 2000 end-page: 602 ident: bb0040 article-title: Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy publication-title: J. Med. Genet. contributor: fullname: Rappold – volume: 86 start-page: 10001 year: 1989 end-page: 10005 ident: bb0005 article-title: Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome publication-title: Proc. Natl. Acad. Sci. contributor: fullname: Ballabio – volume: 2 start-page: 139 year: 2003 end-page: 147 ident: bb0010 article-title: A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD publication-title: Am. J. Med. Genet. A. contributor: fullname: MacLeod – volume: 6 start-page: 46 year: 2005 end-page: 57 ident: bb0095 article-title: X-linked mental retardation publication-title: Nat. Rev. contributor: fullname: Hamel – volume: 45 start-page: 31 year: 2007 end-page: 36 ident: bb0045 article-title: Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation publication-title: J. Dermatol. Sci. contributor: fullname: Ishii – volume: 45 start-page: 519 year: 2008 end-page: 524 ident: bb0050 article-title: X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits publication-title: J. Med. Genet. contributor: fullname: Kent – volume: 4 start-page: 301 year: 2007 end-page: 308 ident: bb0070 article-title: Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD publication-title: Eur. J. Med. Genet. contributor: fullname: Lonardo – volume: 53 start-page: 93 year: 2010 end-page: 99 ident: bb1130 article-title: Interstitial microduplication of Xp22.31: causative of intellectual disability or benign copy number variant? publication-title: Eur. J. Med. Genet. contributor: fullname: Li – volume: 39 start-page: 48 year: 2007 end-page: 54 ident: bb0130 article-title: Copy number variations and clinical cytogenetic diagnosis of constitutional disorders publication-title: Nat. Genet. contributor: fullname: Brothman – volume: 74 start-page: 552 year: 2004 end-page: 557 ident: bb0060 article-title: X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family publication-title: Am. J. Hum. Genet. contributor: fullname: Laumonnier – volume: 73 start-page: 1261 year: 2003 end-page: 1270 ident: bb0120 article-title: Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities publication-title: Am. J. Hum. Genet. contributor: fullname: Vissers – volume: 12 start-page: 732 year: 2012 end-page: 736 ident: bb0125 article-title: Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1 publication-title: Eur. J. Med. Genet contributor: fullname: Mehta – volume: 3 start-page: 182 year: 2010 end-page: 195 ident: bb0100 article-title: Genome destabilization by homologous recombination in the germ line publication-title: Nat. Rev. Mol. Cell Biol. contributor: fullname: Keeney – volume: 242 start-page: 231 year: 1990 end-page: 239 ident: bb0090 article-title: Physical mapping of deletion breakpoints in patients with X-linked ichthyosis: evidence for clustering of distal and proximal breakpoints publication-title: Proc. Biol Sci. contributor: fullname: Ferguson-Smith – volume: 2 start-page: 8 year: 2007 end-page: 14 ident: bb0115 article-title: Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications publication-title: BMC. Med. Genet contributor: fullname: Heine-Suñer – volume: 39 start-page: 48 year: 2007 ident: 10.1016/j.gene.2013.06.018_bb0130 article-title: Copy number variations and clinical cytogenetic diagnosis of constitutional disorders publication-title: Nat. Genet. doi: 10.1038/ng2092 contributor: fullname: Lee – volume: 12 start-page: 1529 year: 2003 ident: 10.1016/j.gene.2013.06.018_bb0025 article-title: An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits publication-title: Epilepsia doi: 10.1111/j.0013-9580.2003.61702.x contributor: fullname: Doherty – volume: 73 start-page: 1261 year: 2003 ident: 10.1016/j.gene.2013.06.018_bb0120 article-title: Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities publication-title: Am. J. Hum. Genet. doi: 10.1086/379977 contributor: fullname: Vissers – volume: 67 start-page: 563 year: 2000 ident: 10.1016/j.gene.2013.06.018_bb0035 article-title: A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation publication-title: Am. J. Hum. Genet. doi: 10.1086/303047 contributor: fullname: Fukami – volume: 158 start-page: 483 year: 2008 ident: 10.1016/j.gene.2013.06.018_bb0015 article-title: Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosis publication-title: Br. J. Dermatol. doi: 10.1111/j.1365-2133.2007.08373.x contributor: fullname: Cuevas-Covarrubias – volume: 12 start-page: 732 year: 2012 ident: 10.1016/j.gene.2013.06.018_bb0125 article-title: Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1 publication-title: Eur. J. Med. Genet doi: 10.1016/j.ejmg.2012.08.011 contributor: fullname: Weisfeld-Adams – volume: 45 start-page: 31 year: 2007 ident: 10.1016/j.gene.2013.06.018_bb0045 article-title: Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation publication-title: J. Dermatol. Sci. doi: 10.1016/j.jdermsci.2006.10.001 contributor: fullname: Hosomi – volume: 14 start-page: 1795 year: 2005 ident: 10.1016/j.gene.2013.06.018_bb0030 article-title: Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/ddi186 contributor: fullname: Esch – volume: 53 start-page: 93 year: 2010 ident: 10.1016/j.gene.2013.06.018_bb1130 article-title: Interstitial microduplication of Xp22.31: causative of intellectual disability or benign copy number variant? publication-title: Eur. J. Med. Genet. doi: 10.1016/j.ejmg.2010.01.004 contributor: fullname: Li – volume: 9 start-page: 311 year: 2000 ident: 10.1016/j.gene.2013.06.018_bb0055 article-title: A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/9.2.311 contributor: fullname: Lahn – volume: 2 start-page: 8 year: 2007 ident: 10.1016/j.gene.2013.06.018_bb0115 article-title: Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications publication-title: BMC. Med. Genet contributor: fullname: Torres-Juan – volume: 3 start-page: 182 year: 2010 ident: 10.1016/j.gene.2013.06.018_bb0100 article-title: Genome destabilization by homologous recombination in the germ line publication-title: Nat. Rev. Mol. Cell Biol. doi: 10.1038/nrm2849 contributor: fullname: Sasaki – volume: 4 start-page: 301 year: 2007 ident: 10.1016/j.gene.2013.06.018_bb0070 article-title: Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD publication-title: Eur. J. Med. Genet. doi: 10.1016/j.ejmg.2007.04.005 contributor: fullname: Lonardo – volume: 14 start-page: 70 year: 1978 ident: 10.1016/j.gene.2013.06.018_bb0105 article-title: X-linked ichthyosis due to steroid-sulphatase deficiency publication-title: Lancet doi: 10.1016/S0140-6736(78)90005-3 contributor: fullname: Shapiro – volume: 6 start-page: 46 year: 2005 ident: 10.1016/j.gene.2013.06.018_bb0095 article-title: X-linked mental retardation publication-title: Nat. Rev. doi: 10.1038/nrg1501 contributor: fullname: Ropers – volume: 6 start-page: 603 year: 1990 ident: 10.1016/j.gene.2013.06.018_bb9000 article-title: Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements publication-title: Cell doi: 10.1016/0092-8674(90)90472-Q contributor: fullname: Yen – volume: 51 start-page: 68 year: 2008 ident: 10.1016/j.gene.2013.06.018_bb0085 article-title: Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes publication-title: Eur. J. Med. Genet. doi: 10.1016/j.ejmg.2007.11.002 contributor: fullname: Mochel – volume: 14 start-page: R27 year: 2005 ident: 10.1016/j.gene.2013.06.018_bb0110 article-title: X-linked genes and mental functioning publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/ddi112 contributor: fullname: Skuse – volume: 2 start-page: 139 year: 2003 ident: 10.1016/j.gene.2013.06.018_bb0010 article-title: A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD publication-title: Am. J. Med. Genet. A. doi: 10.1002/ajmg.a.20231 contributor: fullname: Boycott – volume: 5 start-page: 409 year: 2008 ident: 10.1016/j.gene.2013.06.018_bb0080 article-title: Private inherited microdeletion/microduplications: implications in clinical practice publication-title: Eur. J. Med. Genet. doi: 10.1016/j.ejmg.2008.06.003 contributor: fullname: Mencarelli – volume: 38 start-page: 145 year: 2001 ident: 10.1016/j.gene.2013.06.018_bb0020 article-title: Clinical studies on submicroscopic, subtelomeric rearrangements: some clinical guidelines publication-title: J. Med. Genet. doi: 10.1136/jmg.38.3.145 contributor: fullname: De Vries – volume: 37 start-page: 600 year: 2000 ident: 10.1016/j.gene.2013.06.018_bb0040 article-title: Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy publication-title: J. Med. Genet. doi: 10.1136/jmg.37.8.600 contributor: fullname: Gohlke – volume: 86 start-page: 10001 year: 1989 ident: 10.1016/j.gene.2013.06.018_bb0005 article-title: Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome publication-title: Proc. Natl. Acad. Sci. doi: 10.1073/pnas.86.24.10001 contributor: fullname: Ballabio – volume: 45 start-page: 519 year: 2008 ident: 10.1016/j.gene.2013.06.018_bb0050 article-title: X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits publication-title: J. Med. Genet. doi: 10.1136/jmg.2008.057729 contributor: fullname: Kent – volume: 74 start-page: 552 year: 2004 ident: 10.1016/j.gene.2013.06.018_bb0060 article-title: X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family publication-title: Am. J. Hum. Genet. doi: 10.1086/382137 contributor: fullname: Laumonnier – volume: 51 start-page: 329 year: 2007 ident: 10.1016/j.gene.2013.06.018_bb0075 article-title: Deletions of VCX-A and NLGN4: a variable phenotype including normal intellect publication-title: J. Intellect. Disabil. Res. doi: 10.1111/j.1365-2788.2006.00880.x contributor: fullname: Macarov – volume: 242 start-page: 231 year: 1990 ident: 10.1016/j.gene.2013.06.018_bb0090 article-title: Physical mapping of deletion breakpoints in patients with X-linked ichthyosis: evidence for clustering of distal and proximal breakpoints publication-title: Proc. Biol Sci. doi: 10.1098/rspb.1990.0129 contributor: fullname: Newman |
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Snippet | X-linked ichthyosis is a genetic disorder affecting the skin and caused by a deficit in the steroid sulfatase enzyme (STS), often associated with a recurrent... |
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SubjectTerms | Adolescent Chromosome Deletion Chromosomes, Human, X Comparative Genomic Hybridization Female Genomic rearrangements Humans Ichthyosis, X-Linked - genetics In Situ Hybridization, Fluorescence Male Mental Retardation, X-Linked - genetics Nuclear Proteins - genetics Pedigree Steryl-Sulfatase - genetics STS deficiency Whole genome analysis |
Title | Xp22.3 interstitial deletion: A recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation |
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