Novel IFT122 Mutation Associated with Impaired Ciliogenesis and Cranioectodermal Dysplasia

Overview

Journal Mol Genet Genomic Med

Specialty Genetics

Date 2014 Apr 2

PMID 24689072

Citations 15

Authors

Anas M AlAzami

Mohammed Zain Seidahmed

Fatema Alzahrani

Adam O Mohammed

Fowzan S Alkuraya

Affiliations

Soon will be listed here.

Abstract

Cranioectodermal dysplasia (CED) is a very rare autosomal recessive disorder characterized by a recognizable craniofacial profile in addition to ectodermal manifestations involving the skin, hair, and teeth. Four genes are known to be mutated in this disorder, all involved in the ciliary intraflagellar transport confirming that CED is a ciliopathy. In a multiplex consanguineous family with typical CED features in addition to intellectual disability and severe cutis laxa, we used autozygosity-guided candidate gene analysis to identify a novel homozygous mutation in IFT122, and demonstrated impaired ciliogenesis in patient fibroblasts. This report on IFT122 broadens the phenotype of CED and expands its allelic heterogeneity.

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