靶向基因组富集和大规模平行测序在喀麦隆家庭中鉴定出新型非综合征性听力损失致病变异。
Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.
作者信息
Lebeko K, Sloan-Heggen C M, Noubiap J J N, Dandara C, Kolbe D L, Ephraim S S, Booth K T, Azaiez H, Santos-Cortez R L P, Leal S M, Smith R J H, Wonkam A
机构信息
Division of Human Genetics, Department of Pathology, Faculty of Health Sciences University of Cape Town, Cape Town, South Africa.
Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USA.
出版信息
Clin Genet. 2016 Sep;90(3):288-90. doi: 10.1111/cge.12799. Epub 2016 Jun 1.
Abstract
In sub-Saharan Africa GJB2-related nonsyndromic hearing impairment (NSHI) is rare. Ten Cameroonian families was studied using a platform (OtoSCOPE®) with 116 genes. In seven of 10 families (70%), 12 pathogenic variants were identified in six genes. Five of the 12 (41.6%) variants are novel. These results confirm the efficiency of comprehensive genetic testing in defining the causes of NSHI in sub-Saharan Africa.
摘要
在撒哈拉以南非洲地区，与GJB2相关的非综合征性听力损失（NSHI）较为罕见。对10个喀麦隆家庭使用一个包含116个基因的平台（OtoSCOPE®）进行了研究。在10个家庭中的7个（70%）家庭里，在6个基因中鉴定出了12个致病变异。这12个变异中有5个（41.6%）是新发现的。这些结果证实了全面基因检测在确定撒哈拉以南非洲地区NSHI病因方面的有效性。
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