Becker Kerstin, Di Donato Nataliya, Holder-Espinasse Muriel, Andrieux Joris, Cuisset Jean-Marie, Vallée Louis, Plessis Ghislaine, Jean Nolwenn, Delobel Bruno, Thuresson Ann-Charlotte, Annerén Göran, Ravn Kirstine, Tümer Zeynep, Tinschert Sigrid, Schrock Evelin, Jønch Aia Elise, Hackmann Karl
Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307 Dresden, Germany.
Eur J Med Genet. 2012 Aug-Sep;55(8-9):490-7. doi: 10.1016/j.ejmg.2012.03.003. Epub 2012 Apr 12.
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.
间质6q缺失可导致不同的表型，这取决于缺失的大小和位置。6q14缺失与智力残疾以及一系列独特的轻微异常有关，包括伴有内眦赘皮的上斜睑裂、鼻尖宽阔的短鼻、鼻孔前倾、人中长和上唇薄。在本研究中，我们描述了两名患有重叠6q14缺失的患者，他们表现出发育迟缓以及特征性的畸形。使用阵列比较基因组杂交（array CGH）分析进行分子核型分析分别揭示了在6q14.1-q14.3处有一个8.9 Mb的新生缺失以及在6q12.1-6q14.1处有一个11.3 Mb的新生缺失。我们对通过阵列CGH分析检测到的另外12例6q14缺失患者的临床特征进行了综述。通过评估所有报告的数据，我们未能确定一个单一的共同缺失区域。6q14中可能与智力残疾相关的候选基因可能是FILIP1、MYO6、HTR1B和SNX14。
