| High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia. | |
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MedLine Citation:
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PMID: 21278390 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Congenital malformations involving the Müllerian ducts are observed in around 5% of infertile women. Complete aplasia of the uterus, cervix, and upper vagina, also termed Müllerian aplasia or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, occurs with an incidence of around 1 in 4500 female births, and occurs in both isolated and syndromic forms. Previous reports have suggested that a proportion of cases, especially syndromic cases, are caused by variation in copy number at different genomic loci. METHODS: In order to obtain an overview of the contribution of copy number variation to both isolated and syndromic forms of Müllerian aplasia, copy number assays were performed in a series of 63 cases, of which 25 were syndromic and 38 isolated. RESULTS: A high incidence (9/63, 14%) of recurrent copy number variants in this cohort is reported here. These comprised four cases of microdeletion at 16p11.2, an autism susceptibility locus not previously associated with Müllerian aplasia, four cases of microdeletion at 17q12, and one case of a distal 22q11.2 microdeletion. Microdeletions at 16p11.2 and 17q12 were found in 4/38 (10.5%) cases with isolated Müllerian aplasia, and at 16p11.2, 17q12 and 22q11.2 (distal) in 5/25 cases (20%) with syndromic Müllerian aplasia. CONCLUSION: The finding of microdeletion at 16p11.2 in 2/38 (5%) of isolated and 2/25 (8%) of syndromic cases suggests a significant contribution of this copy number variant alone to the pathogenesis of Müllerian aplasia. Overall, the high incidence of recurrent copy number variants in all forms of Müllerian aplasia has implications for the understanding of the aetiopathogenesis of the condition, and for genetic counselling in families affected by it. |
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Authors:
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Serena Nik-Zainal; Reiner Strick; Mekayla Storer; Ni Huang; Roland Rad; Lionel Willatt; Tomas Fitzgerald; Vicki Martin; Richard Sandford; Nigel P Carter; Andreas R Janecke; Stefan P Renner; Patricia G Oppelt; Peter Oppelt; Christine Schulze; Sara Brucker; Matthew Hurles; Matthias W Beckmann; Pamela L Strissel; Charles Shaw-Smith |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2011-01-28 |
Journal Detail:
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Title: Journal of medical genetics Volume: 48 ISSN: 1468-6244 ISO Abbreviation: J. Med. Genet. Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-02-17 Completed Date: 2011-05-26 Revised Date: 2012-04-13 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: England |
Other Details:
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Languages: eng Pagination: 197-204 Citation Subset: IM |
Affiliation:
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Department of Obstetrics and Gynecology, University-Clinic Erlangen, Erlangen, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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46, XX Disorders of Sex Development*
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epidemiology,
genetics Abnormalities, Multiple* / epidemiology, genetics Adolescent Adult Chromosome Deletion* Cohort Studies Congenital Abnormalities* / epidemiology, genetics DNA Copy Number Variations* Female Genetic Testing Humans Incidence Mullerian Ducts / abnormalities Syndrome Uterus / abnormalities Vagina / abnormalities Young Adult |
| Grant Support | |
ID/Acronym/Agency:
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077008//Wellcome Trust; 077014//Wellcome Trust; 079973//Wellcome Trust; //Wellcome Trust |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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