MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation
A newborn with severe microcephaly and a history of parental consanguinity was referred for cytogenetic analysis and subsequently for genetic evaluation. While a 46,XY karyotype was eventually obtained, premature chromosome condensation was observed. A head MRI confirmed primary microcephaly. This c...
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| Published in | European journal of medical genetics Vol. 56; no. 11; pp. 609 - 613 |
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| Main Authors | , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Netherlands
Elsevier Masson SAS
01.11.2013
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| Subjects | |
| Online Access | Get full text |
| ISSN | 1769-7212 1878-0849 1878-0849 |
| DOI | 10.1016/j.ejmg.2013.09.007 |
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| Abstract | A newborn with severe microcephaly and a history of parental consanguinity was referred for cytogenetic analysis and subsequently for genetic evaluation. While a 46,XY karyotype was eventually obtained, premature chromosome condensation was observed. A head MRI confirmed primary microcephaly. This combination of features focused clinical interest on the MCPH1 gene and directed genetic testing by sequence analysis and duplication/deletion studies disclosed a homozygous deletion of exons 1–11 of the MCPH1 gene. This case illustrates a strength of standard cytogenetic evaluation in directing molecular testing to a single target gene in this disorder, allowing much more rapid diagnosis at a substantial cost savings for this family. |
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| AbstractList | A newborn with severe microcephaly and a history of parental consanguinity was referred for cytogenetic analysis and subsequently for genetic evaluation. While a 46,XY karyotype was eventually obtained, premature chromosome condensation was observed. A head MRI confirmed primary microcephaly. This combination of features focused clinical interest on the MCPH1 gene and directed genetic testing by sequence analysis and duplication/deletion studies disclosed a homozygous deletion of exons 1-11 of the MCPH1 gene. This case illustrates a strength of standard cytogenetic evaluation in directing molecular testing to a single target gene in this disorder, allowing much more rapid diagnosis at a substantial cost savings for this family.A newborn with severe microcephaly and a history of parental consanguinity was referred for cytogenetic analysis and subsequently for genetic evaluation. While a 46,XY karyotype was eventually obtained, premature chromosome condensation was observed. A head MRI confirmed primary microcephaly. This combination of features focused clinical interest on the MCPH1 gene and directed genetic testing by sequence analysis and duplication/deletion studies disclosed a homozygous deletion of exons 1-11 of the MCPH1 gene. This case illustrates a strength of standard cytogenetic evaluation in directing molecular testing to a single target gene in this disorder, allowing much more rapid diagnosis at a substantial cost savings for this family. A newborn with severe microcephaly and a history of parental consanguinity was referred for cytogenetic analysis and subsequently for genetic evaluation. While a 46,XY karyotype was eventually obtained, premature chromosome condensation was observed. A head MRI confirmed primary microcephaly. This combination of features focused clinical interest on the MCPH1 gene and directed genetic testing by sequence analysis and duplication/deletion studies disclosed a homozygous deletion of exons 1–11 of the MCPH1 gene. This case illustrates a strength of standard cytogenetic evaluation in directing molecular testing to a single target gene in this disorder, allowing much more rapid diagnosis at a substantial cost savings for this family. Abstract A newborn with severe microcephaly and a history of parental consanguinity was referred for cytogenetic analysis and subsequently for genetic evaluation. While a 46,XY karyotype was eventually obtained, premature chromosome condensation was observed. A head MRI confirmed primary microcephaly. This combination of features focused clinical interest on the MCPH1 gene and directed genetic testing by sequence analysis and duplication/deletion studies disclosed a homozygous deletion of exons 1–11 of the MCPH1 gene. This case illustrates a strength of standard cytogenetic evaluation in directing molecular testing to a single target gene in this disorder, allowing much more rapid diagnosis at a substantial cost savings for this family. |
| Author | Thrush, Devon Lamb Hamelberg, Elizabeth Tan, Christopher Pastore, Matthew Gastier-Foster, Julie M. del Gaudio, Daniela Bartholomew, Dennis Astbury, Caroline Pfau, Ruthann B. Botes, Shaun |
| Author_xml | – sequence: 1 givenname: Ruthann B. surname: Pfau fullname: Pfau, Ruthann B. organization: Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA – sequence: 2 givenname: Devon Lamb surname: Thrush fullname: Thrush, Devon Lamb organization: Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA – sequence: 3 givenname: Elizabeth surname: Hamelberg fullname: Hamelberg, Elizabeth organization: Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA – sequence: 4 givenname: Dennis surname: Bartholomew fullname: Bartholomew, Dennis organization: Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA – sequence: 5 givenname: Shaun surname: Botes fullname: Botes, Shaun organization: Department of Human Genetics, The University of Chicago, Chicago, IL, USA – sequence: 6 givenname: Matthew surname: Pastore fullname: Pastore, Matthew organization: Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA – sequence: 7 givenname: Christopher surname: Tan fullname: Tan, Christopher organization: Department of Human Genetics, The University of Chicago, Chicago, IL, USA – sequence: 8 givenname: Daniela surname: del Gaudio fullname: del Gaudio, Daniela organization: Department of Human Genetics, The University of Chicago, Chicago, IL, USA – sequence: 9 givenname: Julie M. surname: Gastier-Foster fullname: Gastier-Foster, Julie M. organization: Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA – sequence: 10 givenname: Caroline surname: Astbury fullname: Astbury, Caroline email: caroline.astbury@nationwidechildrens.org organization: Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA |
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| Cites_doi | 10.1007/s00439-005-0104-y 10.1086/341283 10.1186/1750-1172-6-39 10.1016/j.jmb.2009.11.029 10.1093/hmg/dds386 10.1093/brain/aws019 10.1212/WNL.0b013e3181b8799a 10.1016/j.pneurobio.2009.11.002 10.1086/339518 10.1002/ajmg.a.33234 10.1097/GIM.0b013e3181f8baad 10.1212/WNL.0b013e3181b783f7 10.1038/sj.onc.1210595 10.1136/jmg.2009.076398 |
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| Keywords | Human Cytogenetic analysis Premature chromosome condensation syndrome Genes Primary autosomal recessive 1 Consanguinity Recessive MCPH1 protein Microcephaly Cell cycle proteins Array-based comparative genomic hybridization |
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| References | Mahmood, Ahmad, Hassan (bib8) 2011; 6 Darvish, Esmaeeli-Nieh, Monajemi, Mohseni, Ghasemi-Firozabadi, Abednini, Bahman, Jamail, Azimi, Mohahedi, Dehghan, Shafeghati, Jankhah, Falah, Soltani Banavandi, Ghani-Kakhi, Garshasbi, Rakshani, Naghavi, Tzschach, Neitzel, Ropers, Kuss, Behjati, Kahrizi, Najmabadi (bib3) 2010; 47 Manning, Hudgins (bib16) 2010; 12 Neitzel, Neumann, Schindler, Wirges, Tönnies, Trimborn, Krebsova, Richter, Sperling (bib6) 2002; 70 Ashwal, Michelson, Plawner, Dobyns (bib1) 2009; 73 Kaindl, Passemard, Kumar, Kraemer, Issa, Zwirner, Gerard, Verloes, Mani, Gressens (bib2) 2010; 90 Genin, Desir, Lambert, Biervliet, Van Der Aa, Pierquin, Killian, Tosi, Urbina, Lefort, Libert, Pirson, Abramowicz (bib7) 2012; 21 Passemard, Kaindl, Titomanlio, Gerard, Gressens, Verloes (bib4) 2009 Garshasbi, Motazacker, Kahrizi, Behjati, Abedini, Nieh, Firouzabadi, Becker, Rüschendorf, Nürnberg, Tzschach, Vazifehmand, Erdogan, Ullmann, Lenzner, Kuss, Ropers, Najmabadi (bib14) 2006; 118 Jackson, Eastwood, Bell, Adu, Toomes, Carr, Roberts, Hampshire, Crow, Mighell, Karbani, Jafri, Rashid, Mueller, Markham, Woods (bib13) 2002; 71 Jeffers, Coull, Stack, Morrison (bib10) 2008; 27 Barkovich, Guerrini, Kuzniecky, Jackson, Dobyns (bib5) 2012; 135 Richards, Leung, Roe, Chen, Bayliss (bib12) 2010; 395 Passemard, Titomanlio, Elmaleh, Afenjar, Alessandri, Andria, de Villemeur, Boespflug-Tanguy, Burglen, Del Giudice, Guimiot, Hyon, Isidore, Mégarbané, Moog, Odent, Hernandez, Pouvreau, Scala, Schaer, Gressens, Gerard, Verloes (bib9) 2009; 73 Farooq, Baig, Tommerup, Kjaer (bib15) 2010; 152A Liang, Lin, Li (bib11) 2009 Neitzel (10.1016/j.ejmg.2013.09.007_bib6) 2002; 70 Jeffers (10.1016/j.ejmg.2013.09.007_bib10) 2008; 27 Genin (10.1016/j.ejmg.2013.09.007_bib7) 2012; 21 Richards (10.1016/j.ejmg.2013.09.007_bib12) 2010; 395 Manning (10.1016/j.ejmg.2013.09.007_bib16) 2010; 12 Kaindl (10.1016/j.ejmg.2013.09.007_bib2) 2010; 90 Farooq (10.1016/j.ejmg.2013.09.007_bib15) 2010; 152A Darvish (10.1016/j.ejmg.2013.09.007_bib3) 2010; 47 Ashwal (10.1016/j.ejmg.2013.09.007_bib1) 2009; 73 Jackson (10.1016/j.ejmg.2013.09.007_bib13) 2002; 71 Mahmood (10.1016/j.ejmg.2013.09.007_bib8) 2011; 6 Passemard (10.1016/j.ejmg.2013.09.007_bib9) 2009; 73 Passemard (10.1016/j.ejmg.2013.09.007_bib4) 2009 Barkovich (10.1016/j.ejmg.2013.09.007_bib5) 2012; 135 Liang (10.1016/j.ejmg.2013.09.007_bib11) 2009 Garshasbi (10.1016/j.ejmg.2013.09.007_bib14) 2006; 118 |
| References_xml | – volume: 73 start-page: 887 year: 2009 end-page: 897 ident: bib1 article-title: Practice parameter: evaluation of the child with microcephaly (an evidence-based review) publication-title: Neurology – volume: 118 start-page: 708 year: 2006 end-page: 715 ident: bib14 article-title: SNP array-based homozygosity mapping reveals publication-title: Hum. Genet. – volume: 71 start-page: 136 year: 2002 end-page: 142 ident: bib13 article-title: Identification of microcephalin, a protein implicated in determining the size of the human brain publication-title: Am. J. Hum. Genet. – volume: 135 start-page: 1348 year: 2012 end-page: 1369 ident: bib5 article-title: A developmental and genetic classification for malformations of cortical development: update 2012 publication-title: Brain – volume: 12 start-page: 742 year: 2010 end-page: 745 ident: bib16 article-title: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities publication-title: Genet. Med. – volume: 70 start-page: 1015 year: 2002 end-page: 1022 ident: bib6 article-title: Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition publication-title: Am. J. Hum. Genet. – volume: 73 start-page: 962 year: 2009 end-page: 969 ident: bib9 article-title: Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations publication-title: Neurology – volume: 152A start-page: 495 year: 2010 end-page: 497 ident: bib15 article-title: Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating publication-title: Am. J. Med. Genet. Part A – volume: 6 start-page: 39 year: 2011 ident: bib8 article-title: Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum publication-title: Orphanet J. Rare Dis. – year: 2009 ident: bib11 article-title: MCPH1 (Microcephalin 1) publication-title: Atlas Genet. Cytogenet. Oncol. Haematol. – volume: 395 start-page: 908 year: 2010 end-page: 915 ident: bib12 article-title: A pocket on the surface of the publication-title: J. Mol. Biol. – year: 2009 ident: bib4 article-title: Primary autosomal recessive microcephaly publication-title: GeneReviews™ [Internet] – volume: 47 start-page: 823 year: 2010 end-page: 828 ident: bib3 article-title: A clinical and molecular study of 112 Iranian families with primary microcephaly publication-title: J. Med. Genet. – volume: 90 start-page: 363 year: 2010 end-page: 383 ident: bib2 article-title: Many roads lead to primary autosomal recessive microcephaly publication-title: Prog. Neurobiol. – volume: 27 start-page: 139 year: 2008 end-page: 144 ident: bib10 article-title: Distinct BRCT domains in Mcph1/Brit1 mediate ionizing radiation-induced focus formation and centrosomal localization publication-title: Oncogene – volume: 21 start-page: 5306 year: 2012 end-page: 5317 ident: bib7 article-title: Kinetochore KMN network gene CASC5 mutated in primary microcephaly publication-title: Hum. Mol. Genet. – volume: 118 start-page: 708 year: 2006 ident: 10.1016/j.ejmg.2013.09.007_bib14 article-title: SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly publication-title: Hum. Genet. doi: 10.1007/s00439-005-0104-y – year: 2009 ident: 10.1016/j.ejmg.2013.09.007_bib11 article-title: MCPH1 (Microcephalin 1) publication-title: Atlas Genet. Cytogenet. Oncol. Haematol. – volume: 71 start-page: 136 year: 2002 ident: 10.1016/j.ejmg.2013.09.007_bib13 article-title: Identification of microcephalin, a protein implicated in determining the size of the human brain publication-title: Am. J. Hum. Genet. doi: 10.1086/341283 – volume: 6 start-page: 39 year: 2011 ident: 10.1016/j.ejmg.2013.09.007_bib8 article-title: Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum publication-title: Orphanet J. Rare Dis. doi: 10.1186/1750-1172-6-39 – volume: 395 start-page: 908 year: 2010 ident: 10.1016/j.ejmg.2013.09.007_bib12 article-title: A pocket on the surface of the N-terminal BRCT domain of Mcph1 is required to prevent abnormal chromosome condensation publication-title: J. Mol. Biol. doi: 10.1016/j.jmb.2009.11.029 – volume: 21 start-page: 5306 issue: 24 year: 2012 ident: 10.1016/j.ejmg.2013.09.007_bib7 article-title: Kinetochore KMN network gene CASC5 mutated in primary microcephaly publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/dds386 – volume: 135 start-page: 1348 issue: 5 year: 2012 ident: 10.1016/j.ejmg.2013.09.007_bib5 article-title: A developmental and genetic classification for malformations of cortical development: update 2012 publication-title: Brain doi: 10.1093/brain/aws019 – volume: 73 start-page: 962 year: 2009 ident: 10.1016/j.ejmg.2013.09.007_bib9 article-title: Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations publication-title: Neurology doi: 10.1212/WNL.0b013e3181b8799a – volume: 90 start-page: 363 year: 2010 ident: 10.1016/j.ejmg.2013.09.007_bib2 article-title: Many roads lead to primary autosomal recessive microcephaly publication-title: Prog. Neurobiol. doi: 10.1016/j.pneurobio.2009.11.002 – volume: 70 start-page: 1015 year: 2002 ident: 10.1016/j.ejmg.2013.09.007_bib6 article-title: Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition publication-title: Am. J. Hum. Genet. doi: 10.1086/339518 – volume: 152A start-page: 495 year: 2010 ident: 10.1016/j.ejmg.2013.09.007_bib15 article-title: Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1 publication-title: Am. J. Med. Genet. Part A doi: 10.1002/ajmg.a.33234 – volume: 12 start-page: 742 issue: 11 year: 2010 ident: 10.1016/j.ejmg.2013.09.007_bib16 article-title: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities publication-title: Genet. Med. doi: 10.1097/GIM.0b013e3181f8baad – year: 2009 ident: 10.1016/j.ejmg.2013.09.007_bib4 article-title: Primary autosomal recessive microcephaly – volume: 73 start-page: 887 year: 2009 ident: 10.1016/j.ejmg.2013.09.007_bib1 article-title: Practice parameter: evaluation of the child with microcephaly (an evidence-based review) publication-title: Neurology doi: 10.1212/WNL.0b013e3181b783f7 – volume: 27 start-page: 139 year: 2008 ident: 10.1016/j.ejmg.2013.09.007_bib10 article-title: Distinct BRCT domains in Mcph1/Brit1 mediate ionizing radiation-induced focus formation and centrosomal localization publication-title: Oncogene doi: 10.1038/sj.onc.1210595 – volume: 47 start-page: 823 issue: 12 year: 2010 ident: 10.1016/j.ejmg.2013.09.007_bib3 article-title: A clinical and molecular study of 112 Iranian families with primary microcephaly publication-title: J. Med. Genet. doi: 10.1136/jmg.2009.076398 |
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| SubjectTerms | Array-based comparative genomic hybridization Cell cycle proteins Chromosomes, Human - genetics Consanguinity Cytogenetic analysis Exons Gene Deletion Genes Homozygote Human Humans Infant, Newborn Karyotype Male Maxillofacial Abnormalities - diagnosis Maxillofacial Abnormalities - genetics MCPH1 protein Medical Education Microcephaly Microcephaly - diagnosis Microcephaly - genetics Nerve Tissue Proteins - genetics Premature chromosome condensation syndrome Primary autosomal recessive 1 Recessive Syndrome |
| Title | MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation |
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