1. A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy

Katta Girisha, MD 1 Anju Shukla, MD 1 Gandham SriLakshmi Bhavani 1 Malavika Hebbar, MD 1 Daniel Trujillano, PhD 2 Rajagopal Kadavigere, MD 1 Prof. Arndt Rolfs, MD 2
1 Manipal University 2 CENTOGENE AG
February 01, 2016

Clin Genet 2016. doi: 10.1111/cge.12762

Abstract: Intraflagellar transport (IFT) is vital for the functioning of primary cilia. Defects in several components of IFT complexes cause a spectrum of ciliopathies with variable involvement of skeleton, brain, eyes, ectoderm and kidneys. We examined a child from a consanguineous family who had short stature, narrow thorax, short hands and feet, postaxial polydactyly of hands, pigmentary retinopathy, small teeth and skeletal dysplasia. The clinical phenotype of the child shows significant overlap with cranioectodermal dysplasia type I (Sensenbrenner syndrome). Whole-exome sequencing revealed a homozygous nonsense variant p.R142* in IFT52 encoding an IFT-B core complex protein as the probable cause of her condition. This is the first report of a human disease associated with IFT52.