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Clinical features of a novel compound heterozygous genotype of the gene: a case report

Clinical features of a novel compound heterozygous genotype of the gene: a case report

Authors :
Mojiang Li
Yingshu Li
Ting Wen
Haiyan Zhou
Wanqin Xie
Source :
Journal of International Medical Research, Vol 52 (2024)
Publication Year :
2024
Publisher :
SAGE Publishing, 2024.

Abstract

Bardet–Biedl syndrome is a rare autosomal recessive genetic disorder with heterogenous clinical manifestations. The present study reports the clinical features of a novel compound heterozygous genotype of the BBS2 gene in a 14-year-old girl and her 6-year-old sister who had complaints of early-onset low vision. Fundus images revealed retinitis pigmentosa-like changes, and full-field electroretinograms showed no amplitude for the rod or cone response in both patients. Interestingly, nystagmus was observed in the older sister. On physical examination, the sisters had moderate obesity without polydactyly, hypogonadism, or intellectual disability. Exome sequencing revealed a novel compound heterozygous genotype of BBS2 in the sisters, namely the paternally inherited NM_031885.5:c.534 + 1G > T variant and the maternally inherited NM_031885.5:c.700C > T (p.Arg234Ter) variant. Both variants were classified as pathogenic according to the American College of Medical Genetics and Genomics guidelines. This study provides useful information on the genotype-phenotype relationships of the BBS2 gene for genetic counseling and diagnosis.

Subjects

Subjects :
Medicine (General)
R5-920

Details

Language :
English
ISSN :
14732300 and 03000605
Volume :
52
Database :
Directory of Open Access Journals
Journal :
Journal of International Medical Research
Publication Type :
Academic Journal
Accession number :
edsdoj.fe49b6fab928497cba2b20c5e7e65e4b
Document Type :
article
Full Text :
https://doi.org/10.1177/03000605241274239