Premium
Third case of Bardet‐Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74
Author(s) -
Mardy Anne H.,
Hodoglugil Ugur,
Yip Tiffany,
Slavotinek Anne M.
Publication year - 2021
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13962
Subject(s) - bardet–biedl syndrome , ciliopathy , polydactyly , dystrophy , biology , exome sequencing , genetics , autosomal recessive inheritance , medicine , endocrinology , gene , mutation , phenotype
Bardet‐Biedl syndrome (BBS) is a rare ciliopathy characterized by rod‐cone dystrophy, postaxial polydactyly, truncal obesity and renal anomalies with autosomal recessive inheritance. We describe a 6‐year‐old male with early onset retinal dystrophy, postaxial polydactyly, truncal obesity and motor delays. Exome sequencing revealed a homozygous variant predicted to affect splicing of the IFT74 gene, c.1685‐1G > T. This is the third patient with BBS due to variants predicting loss of function in IFT74 . All three patients have had retinal dystrophy, polydactyly, obesity, developmental differences, and a notable lack of renal anomalies. We recommend that IFT74 is added to gene panels for the diagnosis of BBS.