期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 57, 期 5, 页码 200-206出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2013.12.012
关键词
Xq21.1 deletion; BRWD3; Intellectual disability; Macrocephaly
资金
- EU FP7 Large-Scale Integrating Project Genetic and Epigenetic Networks in Cognitive Dysfunction (GENCODYS) [241995]
- Dutch Brain Foundation [2009(2)-81]
Truncating mutations of the BRWD3 gene have been reported in two distinct families with in total four patients so far. By using array-CGH, we detected a 74 Kb de novo deletion encompassing exons 11 through 41 of BRWD3 at Xq21.1 in a 20 year old boy presenting with syndromic intellectual disability. In addition, by using exome sequencing, we ascertained a family with a BRWD3 nonsense mutation, p.Tyr1131*, in four males with intellectual disability. We compared the clinical presentation of these five patients to that of the four patients already described in the literature for further delineation of the clinical spectrum in BRWD3-related intellectual disability. The main symptoms are mild to moderate intellectual disability (n = 9/9) with speech delay (n = 8/8), behavioral disturbances (n = 7/8), macrocephaly (n = 7/9), dysmorphic facial features (n = 9/9) including prominent forehead, pointed chin, deep-set eyes, abnormal ears, and broad hands and feet (n = 6/6), and skeletal symptoms (n = 7/7) like pes planus, scoliosis, kyphosis and cubitus valgus. (C) 2014 Elsevier Masson SAS. All rights reserved.
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