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

K. M. Girisha, A. Shukla, D. Trujillano, G. S. Bhavani, M. Hebbar, R. Kadavigere, A. Rolfs

Research output: Contribution to journalArticle

43 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)536-539
Number of pages4
JournalClinical Genetics
Volume90
Issue number6
DOIs
Publication statusPublished - 01-12-2016

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy'. Together they form a unique fingerprint.

  • Cite this