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Compound Heterozygous Mutations in the BBS-1 Gene and its Clinical Presentation: A Case Report
Eduardo Michelen-Gómez1, Gabriel Guardiola-Dávila2, Natalio J Izquierdo3
1School of Medicine, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico.
Puerto Rico Health Sciences Journal
|November 18, 2021
Summary
Compound heterozygous mutations in the Bardet-Biedl syndrome 1 (BBS1) gene can lead to milder symptoms. This case study highlights a patient with BBS1 compound heterozygosity exhibiting less severe clinical manifestations than typically observed in homozygous patients.
Area of Science:
- Genetics
- Ophthalmology
- Rare Diseases
Background:
- Bardet-Biedl syndrome (BBS) is a rare genetic disorder often caused by biallelic mutations in BBS genes.
- Compound heterozygous mutations involve two different mutated alleles within a gene, potentially influencing disease severity.
- Limited data exists on whether compound heterozygotes exhibit milder phenotypes compared to homozygotes.
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