Genetics of human Bardet-Biedl syndrome, an updates

被引：109

作者：

Khan, S. A. ^{[1
]}

Muhammad, N. ^{[1
]}

Khan, M. A. ^{[2
,3
]}

Kamal, A. ^{[1
]}

Rehman, Z. U. ^{[1
]}

Khan, S. ^{[1
,3
]}

机构：

[1] Kohat Univ Sci & Technol, Dept Biotechnol & Genet Engn, Kohat, Khyber Pakhtunk, Pakistan

[2] Gomal Univ, Gomal Ctr Biochem & Biotechnol, Khyber Pakhtunkhwa, Pakistan

[3] Interim Translat Res Inst, Genom Core Facil, Doha, Qatar

来源：

CLINICAL GENETICS | 2016年 / 90卷 / 01期

关键词：

Bardet-Biedl syndrome; clinical spectrum; disease-causing mutations; genes; MCKUSICK-KAUFMAN-SYNDROME; PLANAR CELL POLARITY; GTP-BINDING PROTEINS; BASAL BODY PROTEOME; E3 UBIQUITIN LIGASE; BBS GENES; PRIMARY CILIUM; HUMAN OBESITY; HETEROZYGOUS MUTATIONS; RETINITIS-PIGMENTOSA;

D O I：

10.1111/cge.12737

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Bardet-Biedl syndrome (BBS) is an autosomal recessive multisystemic human genetic disorder characterized by six major defects including obesity, mental retardation, renal anomalies, polydactyly, retinal degeneration and hypogenitalism. In several cases of BBS, few other features such as metabolic defects, cardiovascular anomalies, speech deficits, hearing loss, hypertension, hepatic defects and high incidence of diabetes mellitus have been reported as well. The BBS displays extensive genetic heterogeneity. To date, 19 genes have been mapped on different chromosomes causing BBS phenotypes having varied mutational load of each BBS gene. In this review, we have discussed clinical spectrum and genetics of BBS. This report presents a concise overview of the current knowledge on clinical data and its molecular genetics progress upto date.

引用

页码：3 / 15

页数：13

共 153 条

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