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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
- 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 :
- Medicine (General)
R5-920
Subjects
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