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Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.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。
Clin Genet. 2016 Sep;90(3):288-90. doi: 10.1111/cge.12799. Epub 2016 Jun 1.
2
Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans.喀麦隆人和南非黑人中GJB2基因测序及与千人基因组计划数据的比较表明，有必要修订非洲人非综合征性耳聋基因的发现策略。
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A novel variant in gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family.一个新的基因变体与一个喀麦隆家族的常染色体显性非综合征性听力损失（DFNA71）相关。
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本文引用的文献

1
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.对1119例听力损失患者进行临床评估时的综合基因检测。
Hum Genet. 2016 Apr;135(4):441-450. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11.
2
Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.中国厦门地区非综合征性耳聋患者常见致聋基因的突变谱
PLoS One. 2015 Aug 7;10(8):e0135088. doi: 10.1371/journal.pone.0135088. eCollection 2015.
3
Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans.喀麦隆人和南非黑人中GJB2基因测序及与千人基因组计划数据的比较表明，有必要修订非洲人非综合征性耳聋基因的发现策略。
OMICS. 2014 Nov;18(11):705-10. doi: 10.1089/omi.2014.0063. Epub 2014 Aug 27.
4
Copy number variants are a common cause of non-syndromic hearing loss.拷贝数变异是一种常见的非综合征性听力损失的原因。
Genome Med. 2014 May 22;6(5):37. doi: 10.1186/gm554. eCollection 2014.
5
Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.中国大前庭水管综合征非综合征型耳聋患者 SLC26A4 新型等位基因变异的分子流行病学及功能评估。
PLoS One. 2012;7(11):e49984. doi: 10.1371/journal.pone.0049984. Epub 2012 Nov 21.
6
Aetiology of childhood hearing loss in Cameroon (sub-Saharan Africa).喀麦隆（撒哈拉以南非洲地区）儿童听力损失的病因
Eur J Med Genet. 2013 Jan;56(1):20-5. doi: 10.1016/j.ejmg.2012.09.010. Epub 2012 Oct 17.
7
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.使用大规模平行测序进行遗传性听力损失的综合基因检测。
Proc Natl Acad Sci U S A. 2010 Dec 7;107(49):21104-9. doi: 10.1073/pnas.1012989107. Epub 2010 Nov 15.
8
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.ANNOVAR：从高通量测序数据中注释遗传变异的功能。
Nucleic Acids Res. 2010 Sep;38(16):e164. doi: 10.1093/nar/gkq603. Epub 2010 Jul 3.
9
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.对一组患有Usher综合征患者的USH1基因突变频率进行的调查显示了钙黏蛋白23和原钙黏蛋白15基因的重要性，并确定了超过90%的检测率。
J Med Genet. 2006 Sep;43(9):763-8. doi: 10.1136/jmg.2006.041954. Epub 2006 May 5.
10
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.对一组遗传性耳聋-视网膜色素变性综合征患者中Ⅰ型遗传性耳聋-视网膜色素变性综合征基因突变的特征分析
Hum Genet. 2005 Mar;116(4):292-9. doi: 10.1007/s00439-004-1227-2. Epub 2005 Jan 20.

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.

DOI:10.1111/cge.12799
PMID:27246798
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5324826/
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。