De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature
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- 作者：Kerstin Becker ; Nataliya Di Donato ; Muriel Holder-Espinasse ; Joris Andrieux ; Jean-Marie Cuisset ; Louis Vall¨¦e ; Ghislaine Plessis ; Nolwenn Jean ; Bruno Delobel ; Ann-Charlotte Thuresson ; G?ran Anner¨¦n ; Kirstine Ravn ; Zeynep T¨¹mer ; Sigrid Tinschert ; Evelin Schrock ; Aia Elise J?nch ; Karl Hackmann
- 关键词：6q14 microdeletion syndrome ; Intellectual disability ; Mental retardation ; Array CGH
- 刊名：European Journal of Medical Genetics
- 出版年：2012
- 出版时间：August-September, 2012
- 年：2012
- 卷：55
- 期：8-9
- 页码：490-497
- 全文大小：739 K
文摘
Interstitial 6q deletions can cause a variable phenotype depending on the size and location of the deletion. 6q14 deletions have been associated with intellectual disability and a distinct pattern of minor anomalies, including upslanted palpebral fissures with epicanthal folds, a short nose with broad nasal tip, anteverted nares, long philtrum, and thin upper lip. In this study we describe two patients with overlapping 6q14 deletions presenting with developmental delay and characteristic dysmorphism. Molecular karyotyping using array CGH analysis revealed a de novo 8.9?Mb deletion at 6q14.1-q14.3 and a de novo 11.3?Mb deletion at 6q12.1-6q14.1, respectively. We provide a review of the clinical features of twelve other patients with 6q14 deletions detected by array CGH analysis. By assessing all reported data we could not identify a single common region of deletion. Possible candidate genes in 6q14 for intellectual disability might be FILIP1, MYO6, HTR1B, and SNX14.