High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia

dc.contributor.authorNikl-Zainal, Serena
dc.contributor.authorStrick, Reiner
dc.contributor.authorStorer, Mekayla
dc.contributor.authorHuang, Ni
dc.contributor.authorRad, Roland
dc.contributor.authorWillatt, Lionel
dc.contributor.authorFitzgerald, Tomas
dc.contributor.authorMartin, Vicki
dc.contributor.authorSandford, Richard
dc.contributor.authorCarter, Nigel P.
dc.contributor.authorJanecke, Andreas R.
dc.contributor.authorRenner, Stefan P.
dc.contributor.authorOppelt, Patricia G.
dc.contributor.authorOppelt, Peter
dc.contributor.authorSchulze, Christine
dc.contributor.authorBrucker, Sara
dc.contributor.authorHurles, Matthew
dc.contributor.authorBeckmann, Matthias W.
dc.contributor.authorStrissel, Pamela L.
dc.date.accessioned2015-06-25
dc.date.available2015-06-25
dc.date.created2011
dc.date.issued2015-06-25
dc.description.abstractBackground 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.en
dc.format.extentS. 197-204
dc.identifier.citationJournal of Medical Genetics 48.3 (2011);S. 197-204. <http://jmg.bmj.com/content/48/3/197.full>
dc.identifier.doihttps://doi.org/10.1136/jmg.2010.082412
dc.identifier.opus-id6372
dc.identifier.urihttps://open.fau.de/handle/openfau/6372
dc.identifier.urnurn:nbn:de:bvb:29-opus4-63729
dc.language.isoen
dc.rights.urihttp://www.gesetze-im-internet.de/urhg/index.html
dc.subject-
dc.subject.ddcDDC Classification::6 Technik, Medizin, angewandte Wissenschaften :: 61 Medizin und Gesundheit :: 610 Medizin und Gesundheit
dc.titleHigh incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasiaen
dc.typearticle
dcterms.publisherFriedrich-Alexander-Universität Erlangen-Nürnberg (FAU)
local.journal.issue3
local.journal.titleJournal of Medical Genetics
local.journal.volume48
local.sendToDnbfree*
local.subject.fakultaetMedizinische Fakultät
local.subject.gnd-
local.subject.sammlungUniversität Erlangen-Nürnberg / Allianzlizenzen: Alle Beiträge sind mit Zustimmung der Rechteinhaber aufgrund einer DFG-geförderten Allianzlizenz frei zugänglich. / Allianzlizenzen 2011
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