Journal
FRONTIERS IN PEDIATRICS
Volume 11, Issue -, Pages -Publisher
FRONTIERS MEDIA SA
DOI: 10.3389/fped.2023.1226595
Keywords
Bardet-Biedl syndrome; mutation; ciliopathies; kidney disease; family
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Bardet-Biedl syndrome (BBS) is a rare genetic syndrome caused by mutations in genes responsible for primary cilia. This case report highlights the diversity in clinical expression and renal impairment in a family with BBS caused by a rare mutation. The study emphasizes the importance of genetic analysis in timely diagnosis and prevention of long-term complications in patients with BBS.
IntroductionBardet-Biedl syndrome (BBS) is a rare genetic syndrome caused by a mutation in one of 26 different genes responsible for normal structure and/or function of primary cilia. The syndrome is characterized by multiorgan involvement with gradual onset of occurrence of clinical signs and symptoms resulting in great phenotypic variability and what is more important, often difficulties with establishing the timely diagnosis. Case reportWe report a case of a one family with three members with BBS caused by a very rare mutation, a compound heterozygosity in BB12 gene. Even though all three patients have the same type of mutation, they express a significant diversity in clinical expression as well as renal impairment. ConclusionThis is a case report of a rare clinical syndrome caused by a very rare genetic mutation and it emphasizes the importance of genetic analysis in the timely diagnosis of oligosymptomatic patients with BBS, in order to possibly prevent long-term complications.
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