Array-CGH detection of a de novo 0.8Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features
We report on a 28-year old woman carrying a 0.8 Mb de novo interstitial deletion in 19q13.32 detected by high-resolution array-CGH. She has severe mental retardation, tetralogy of Fallot, cleft lip and palate, deafness, megacolon and other dysmorphic features. Only a few cases of constitutional dele...
Saved in:
Published in | European journal of medical genetics Vol. 52; no. 1; pp. 62 - 66 |
---|---|
Main Authors | , , , , , |
Format | Report |
Language | English |
Published |
01.01.2009
|
Online Access | Get full text |
Cover
Loading…
Abstract | We report on a 28-year old woman carrying a 0.8 Mb de novo interstitial deletion in 19q13.32 detected by high-resolution array-CGH. She has severe mental retardation, tetralogy of Fallot, cleft lip and palate, deafness, megacolon and other dysmorphic features. Only a few cases of constitutional deletions located at the long arm of chromosome 19 have been previously described and this is the first report involving 19q13.32. The deleted region encompasses 15 genes, among which 3 candidate genes for genotype-phenotype correlation could be delineated. Since SLC8A2 is broadly expressed in brain and plays a potential role during embryonic development, its haploinsufficiency could possibly be related to mental retardation; as it is also expressed in aortic and intestinal smooth muscles, SLC8A2 could be related to the aortic defect of the complex cardiac malformation and to the megacolon. SAE1, a SUMO-1 activating enzyme subunit, may be related to cleft lip and palate. KPTN coding region may be a candidate gene for hearing loss. Further experimental studies on either in vivo models or diagnostic materials are needed to elucidate the role of these potential candidate genes for the phenotypic abnormalities observed in the investigated patient. |
---|---|
AbstractList | We report on a 28-year old woman carrying a 0.8 Mb de novo interstitial deletion in 19q13.32 detected by high-resolution array-CGH. She has severe mental retardation, tetralogy of Fallot, cleft lip and palate, deafness, megacolon and other dysmorphic features. Only a few cases of constitutional deletions located at the long arm of chromosome 19 have been previously described and this is the first report involving 19q13.32. The deleted region encompasses 15 genes, among which 3 candidate genes for genotype-phenotype correlation could be delineated. Since SLC8A2 is broadly expressed in brain and plays a potential role during embryonic development, its haploinsufficiency could possibly be related to mental retardation; as it is also expressed in aortic and intestinal smooth muscles, SLC8A2 could be related to the aortic defect of the complex cardiac malformation and to the megacolon. SAE1, a SUMO-1 activating enzyme subunit, may be related to cleft lip and palate. KPTN coding region may be a candidate gene for hearing loss. Further experimental studies on either in vivo models or diagnostic materials are needed to elucidate the role of these potential candidate genes for the phenotypic abnormalities observed in the investigated patient. |
Author | Duban-Bedu, Bénédicte Andrieux, Joris Bouquillon, Sonia Brevière, Georges-Marie Delobel, Bruno Leal, Teresinha |
Author_xml | – sequence: 1 givenname: Teresinha surname: Leal fullname: Leal, Teresinha – sequence: 2 givenname: Joris surname: Andrieux fullname: Andrieux, Joris – sequence: 3 givenname: Bénédicte surname: Duban-Bedu fullname: Duban-Bedu, Bénédicte – sequence: 4 givenname: Sonia surname: Bouquillon fullname: Bouquillon, Sonia – sequence: 5 givenname: Georges-Marie surname: Brevière fullname: Brevière, Georges-Marie – sequence: 6 givenname: Bruno surname: Delobel fullname: Delobel, Bruno |
BookMark | eNqNjLtOwzAUhi0EEi3wAkxnYmqNnUDqjKiCdmFjrw7OSePIl9R2QH003o5Qwc703z79c3bugyfGbqXgUsjqvufUuz0vhFBc1FyI1RmbSbVSS6Ee6ks2T6kXolSyqGfs6ylGPC7Xmy00lElnEzyEFnCK4MNHAMHV6_uULJ0240HWB1nysgBMKWiDmRr4NLkDRz6jhUgZY4M_-AL0ZA1qcGjbEN1fa6nNYM0A6BsY0E4nC-gIo_F7sCGl0-BGm81gCZpjciEOndHQEuYxUrpmFy3aRDe_esXuXp7f1tvlEMNhpJR3ziRN1qKnMKZdVSlRVY-y_Df4DcIVbk0 |
ContentType | Report |
DBID | 7X8 |
DOI | 10.1016/j.ejmg.2008.09.007 |
DatabaseName | MEDLINE - Academic |
DatabaseTitle | MEDLINE - Academic |
DatabaseTitleList | MEDLINE - Academic |
DeliveryMethod | fulltext_linktorsrc |
Discipline | Medicine |
EISSN | 1878-0849 |
EndPage | 66 |
Genre | Report Correspondence Case Study |
GroupedDBID | --- --K --M .1- .FO .~1 0R~ 1B1 1P~ 1~. 1~5 4.4 457 4G. 5GY 5VS 7-5 71M 7X8 8P~ AACTN AAEDT AAEDW AAIKJ AAKOC AALRI AAOAW AAQFI AAXUO ABBQC ABGSF ABJNI ABMAC ABUDA ABXDB ACDAQ ACGFS ACIUM ACRLP ADBBV ADEZE ADMUD ADUVX AEBSH AEHWI AEKER AENEX AEVXI AFCTW AFKWA AFRHN AFTJW AFXIZ AGHFR AGUBO AGYEJ AIEXJ AIKHN AITUG AJOXV AJRQY AJUYK AKRWK ALMA_UNASSIGNED_HOLDINGS AMFUW AMRAJ ANZVX AXJTR BKOJK BLXMC BNPGV CS3 DU5 EBS EFJIC EJD EO8 EO9 EP2 EP3 F5P FDB FEDTE FIRID FNPLU FYGXN G-Q HVGLF HZ~ IHE J1W KOM M41 MO0 N9A O-L O9- O9. OAUVE OK~ OZT P-9 P2P PC. Q38 RIG ROL RPZ SDF SDG SES SPCBC SSH SSU SSZ T5K Z5R ~G- |
ID | FETCH-proquest_miscellaneous_668066513 |
IngestDate | Fri Aug 16 07:08:52 EDT 2024 |
IsPeerReviewed | false |
IsScholarly | false |
Issue | 1 |
Language | English |
LinkModel | OpenURL |
MergedId | FETCHMERGED-proquest_miscellaneous_668066513 |
Notes | ObjectType-Case Study-3 ObjectType-Correspondence-1 content type line 59 SourceType-Reports-1 ObjectType-Report-2 |
PQID | 66806651 |
PQPubID | 23479 |
ParticipantIDs | proquest_miscellaneous_66806651 |
PublicationCentury | 2000 |
PublicationDate | 20090101 |
PublicationDateYYYYMMDD | 2009-01-01 |
PublicationDate_xml | – month: 01 year: 2009 text: 20090101 day: 01 |
PublicationDecade | 2000 |
PublicationTitle | European journal of medical genetics |
PublicationYear | 2009 |
SSID | ssj0038129 |
Score | 2.7211485 |
Snippet | We report on a 28-year old woman carrying a 0.8 Mb de novo interstitial deletion in 19q13.32 detected by high-resolution array-CGH. She has severe mental... |
SourceID | proquest |
SourceType | Aggregation Database |
StartPage | 62 |
Title | Array-CGH detection of a de novo 0.8Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features |
URI | https://search.proquest.com/docview/66806651 |
Volume | 52 |
hasFullText | 1 |
inHoldings | 1 |
isFullTextHit | |
isPrint | |
link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnZ3LjtMwFIatMiDEjqu4cxaIjSdRmyZpsoRhhgq1w4KM1F3lOM6QUZowbYIYFrwXz8LLcGzHTqGgATZp4zSu0vPJ56_92ybkucgnjDPhObnPhOOnPHKiLEsdjlIW9ceQx8o8Pj8Opyf-20WwGAy-b7mW2iZ1-Zffziv5n6hiGcZVzpL9h8jaSrEA32N88YgRxuNfxfjles0unIM3U5qJRnAj_hie0qr-VNOhG81TKve6MZ7GUXw-Grtjj7IuLsZ-bhf5b5AZbfnAX58rgDhdsdJOc1TlpcgbWhYf9UIDrGR6mz25P7bsfCgx96pL1rCYXWxWNQa14DQXajXRzR9HBTqFvOoGkfD55VRLq_5nQu1SQBOBlRTVB5tZpDuzEO1nPSywLuwdr9uUVc4rTKuKZ-0OqPQLfkfTWwvq9rwtjBfhPTZ47Kd-kXirX0TotjySiwdHekVU09gH3g7UuuXucoLWAHojmJ3sojs6zlxxtjrtbLhytdNJn0uNf-D43fLoZDZbJoeL5Aq56k3iQPoN3a_Wf4RKyYu7WVzacPhrrTvqQEme5Ca5pv-b3SIDUd0m1-edCeMO-WaxA4sd1DkwPAWJHSjswGAHRQUGO-ixA4kdaOxgC7t96KCDbeiwVCIHiBwgV6CR24cOOJDAqQsGOOiBAwPcXfLi6DA5mDrmiZfYysmhK1aJut0swzCSY4Sj8T2yV9WVuE8gCEKeZ5xNvJD7eY4ya8jCsYcaPk1zNvIfkGeXVPbw0k88Ijd6tB6TvWbdiicoQpv0qQrmD_dwlvg |
link.rule.ids | 786,790,4509,27958 |
linkProvider | Elsevier |
openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Array-CGH+detection+of+a+de+novo+0.8Mb+deletion+in+19q13.32+associated+with+mental+retardation%2C+cardiac+malformation%2C+cleft+lip+and+palate%2C+hearing+loss+and+multiple+dysmorphic+features&rft.jtitle=European+journal+of+medical+genetics&rft.au=Leal%2C+Teresinha&rft.au=Andrieux%2C+Joris&rft.au=Duban-Bedu%2C+B%C3%A9n%C3%A9dicte&rft.au=Bouquillon%2C+Sonia&rft.date=2009-01-01&rft.eissn=1878-0849&rft.volume=52&rft.issue=1&rft.spage=62&rft.epage=66&rft_id=info:doi/10.1016%2Fj.ejmg.2008.09.007&rft.externalDBID=NO_FULL_TEXT |