IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

ABSTRACT:

Background

Bidirectional intraflagellar transport (IFT) consists of two major protein complexes, IFT-A and IFT-B. In contrast to the IFT-B complex, all components of IFT-A have recently been linked to human ciliopathies when defective. We therefore hypothesised that mutations in additional IFT-B encoding genes can be found in patients with multisystemic ciliopathies.

Methods

We screened 1628 individuals with reno-ocular ciliopathies by targeted next-generation sequencing of ciliary candidate genes, including all IFT-B encoding genes.

Results

Consequently, we identified a homozygous mutation in IFT81 affecting an obligatory donor splice site in an individual with nephronophthisis and polydactyly. Further, we detected a loss-of-stop mutation with extension of the deduce

SUBMITTER: Perrault I 

PROVIDER: S-EPMC4621372 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature