Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74.

ABSTRACT: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder of the cilia, often resulting in a phenotype of obesity, rod-cone dystrophy, a variable degree of intellectual disability, polydactyly, renal problems, and/or hypogonadism in males or genital abnormalities in females. We here report the case of an 11-year-old girl who presented with postaxial polydactyly, retinal dystrophy, and childhood obesity, suggesting Bardet-Biedl syndrome. She had no renal problems, developmental delay, or intellectual disability. Genetic testing revealed compound heterozygous variants in the IFT74 gene (c.371_372del p.Gln124Argfs*9 and c.16850-1G>T p.?). We here report the second patient with Bardet-Biedl syndrome due to biallelic IFT74 variants. Both patients have obesity, polydactyly, retinal dyst

SUBMITTER: Kleinendorst L 

PROVIDER: S-EPMC7316806 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature