一例BBS12基因复合杂合突变导致Bardet-Biedl综合征的诊断和基因检测分析

doi:10.16288/j.yczz.22-182

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Hereditas(Beijing) ›› 2022, Vol. 44 ›› Issue (10): 975-982.doi: 10.16288/j.yczz.22-182

• Genetic Resource • Previous Articles Next Articles

Diagnosis and genetic analysis of a case with Bardet-Biedl syndrome caused by compound heterozygous mutations in the BBS12 gene

Yanting Shen^1,²(), Yan Ling^1,², Zhiqiang Lu^1,², Xiaomu Li^1,², Hua Bian^1,², Hongmei Yan^1,², Mingfeng Xia^1,², Xinxia Chang^1,², Jingjing Jiang^1,², Jing Zhang^1,²(), Xin Gao^1,²

1. Department of Endocrinology, Zhongshan Hospital, Fudan University, Shanghai 200032, China
2. Institute of Chronic Metabolic Diseases of Fudan University, Shanghai 200032, China

Received:2022-05-30 Revised:2022-08-26 Online:2022-10-20 Published:2022-09-08
Contact: Zhang Jing E-mail:19211210076@fudan.edu.cn;zhang_jing2016@126.com
Supported by:
the National Natural Science Foundation of China(81770865)

Abstract

Abstract:

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy, which is caused by mutations mainly in genes encoding BBSome complex and IFT complex. Here, we reported a 21-year-old female with BBS characterized by three primary features including obesity, retinitis pigmentosa sine pigmento and bilateral renal cysts. She also had some secondary features such as diabetes mellitus, nonalcoholic fatty liver disease, subclinical hypothyroidism and mild conductive hearing damage. Whole exome sequencing revealed two compound heterozygous mutations in exon 2 of the BBS12 gene (c.188delC, p.T63fs and c.1993_1995del, p.665_665del) in this patient. Sanger sequencing showed that her father and mother carried c.188delC (p.T63fs) and c.1993_1995del (p.665_665del) variants, respectively, while her parents were free of BBS-related symptoms. In conclusion, this case reported two novel mutations (c.188delC, p.T63fs and c.1993_1995del, p.665_665del) of the BBS12 gene in a girl presented with BBS, which provides novel genetic resources for studies of the disease. Meanwhile, the BBS case shows the entire development progress from her birth to adulthood, which helps facilitate clinicians’ understanding of BBS.

Key words: Bardet-Biedl syndrome, BBS12 gene, whole exome sequencing

Yanting Shen, Yan Ling, Zhiqiang Lu, Xiaomu Li, Hua Bian, Hongmei Yan, Mingfeng Xia, Xinxia Chang, Jingjing Jiang, Jing Zhang, Xin Gao. Diagnosis and genetic analysis of a case with Bardet-Biedl syndrome caused by compound heterozygous mutations in the BBS12 gene[J]. Hereditas(Beijing), 2022, 44(10): 975-982.

Figures/Tables 3

References 41

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症状	既往报道患者	本例患者
主要症状
视网膜色素变性	+	+
多指/趾	+	-
肥胖	+	+
智力障碍	+	-
性腺发育异常	+	-
肾脏异常	+	+
次要症状
肝功能异常	+	+
糖尿病	+	+
神经运动异常	NA	-
语言障碍	+	-
行为异常	+	-
先天面部畸形	NA	-
牙齿异常	+	-
发育迟缓	+	-
高血压	NA	-
心血管系统异常	+	-
听力受损	+	+
嗅觉缺失/减退	+	-
呼吸系统异常	+	-
甲状腺功能减退	+	+
并指/趾	+	-

Diagnosis and genetic analysis of a case with Bardet-Biedl syndrome caused by compound heterozygous mutations in the BBS12 gene

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