由一个预测会影响IFT74剪接的双等位基因变异引起的巴德-比德尔综合征的第三例病例。

Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74.

作者信息

Mardy Anne H, Hodoglugil Ugur, Yip Tiffany, Slavotinek Anne M

机构信息

Division of Maternal Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, California, USA.

Genomic Medicine Lab, University of California, San Francisco, California, USA.

出版信息

Clin Genet. 2021 Jul;100(1):93-99. doi: 10.1111/cge.13962. Epub 2021 Mar 27.

DOI:10.1111/cge.13962

PMID:33748949

Abstract

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.

摘要

巴德-比埃尔综合征（BBS）是一种罕见的纤毛病，其特征为视锥视杆营养不良、轴后多指畸形、躯干肥胖和肾脏异常，呈常染色体隐性遗传。我们描述了一名6岁男性，患有早发性视网膜营养不良、轴后多指畸形、躯干肥胖和运动发育迟缓。外显子组测序发现一个纯合变异，预计会影响IFT74基因的剪接，即c.1685-1G＞T。这是第三例因预测IFT74功能丧失的变异而患BBS的患者。所有三名患者均有视网膜营养不良、多指畸形、肥胖、发育差异，且明显没有肾脏异常。我们建议将IFT74添加到用于诊断BBS的基因检测板中。