Intrafamilial variation of the phenotype in Bardet-Biedl syndrome.

A Case of Bardet-Biedl Syndrome

Etemadi K1, Khazaii MR2 1. MSC of Human Genetic, Molecular Medicine and Genetic department, Medical school, Hamadan University of medical sciences. 2. Assistant professor of Pediatric Urology Abstract Background: The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. Primary features are: retinitis pigmentosa, obesity, polydactyly, mental retardation, renal abnorm...

Bardet-Biedl Syndrome with End Stage Renal Disease

Bardet-Biedl syndrome (BBS) is one of the rare autosomal recessive disorders that affect multiple organs of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. We present a case of BBS with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental ...

Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family

Bardet-Biedl syndrome (BBS) is a model ciliopathy characterized by a wide range of clinical variability. The heterogeneity of this condition is reflected in the number of underlying gene defects and the epistatic interactions between the proteins encoded. BBS is generally inherited in an autosomal recessive trait. However, in some families, mutations across different loci interact to modulate t...

Behavioural phenotype of Bardet-Biedl syndrome.

Two siblings with Bardet–Biedl syndrome caused by mutations in BBS10: the first case identified in Korea

features or 3 primary and 2 secondary features [1,4]. In addition to the pleiotropic symptoms and signs observed clinically in multiple organ systems, the genetic background of BBS is quite heterogeneous with significant interand intrafamilial variations. The inheritance pattern of BBS is traditionally considered to be autosomal recessive [1]. To date, mutations in 16 genes have been identified...