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- Title
A New Compound Heterozygous Mutation Of BSCL2 In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy.
- Authors
Qin, Yuan-yuan; Zhang, Xuan; Xiang, Li-qun; Shan, Qing-wen; Li, Shou-dong; Yan, Jie; Lin, Fa-quan
- Abstract
Purpose: This study aims to report the clinical features of an infant with CGL in a Chinese Zhuang ethnic family, whose family members were discovered to carry new pathogenic mutations in the BSCL2. Patients and methods: In this study, we report clinical and molecular investigations of CGL disease in a family of 4 members (parents and two sons). We used whole exome sequencing (WES) in the family to examine the genetic cause of the disease. Results: The proband presented with skin pigmentation, hypertriglyceridemia and diabetes. WES identified a previously unreported compound heterozygous mutation in the BSCL2 (c.545_546insCCG heterozygous mutation and exon 3 heterozygous deletion) in the proband. His mother is a heterozygous carrier of the c.545_546insCCG mutation and his father and brother are carriers of the exon 3 heterozygous deletion. Conclusion: Compound heterozygous mutation of the BSCL2 (new c.545_546insCCG heterozygous mutation and new exon 3 heterozygous deletion) was detected in the proband with characteristic clinical manifestations of CGL2.
- Subjects
LIPODYSTROPHY; FATHER-son relationship; GENETIC disorders; FAMILIES
- Publication
Diabetes, Metabolic Syndrome & Obesity: Targets & Therapy, 2019, Vol 12, p2583
- ISSN
1178-7007
- Publication type
Article
- DOI
10.2147/DMSO.S207293