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Article

IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.

Human genetics - 1 Jul 2018

Chekuri Anil, Guru Aditya A, Biswas Pooja, Branham Kari, Borooah Shyamanga, Soto-Hermida Angel, Hicks Michael, Khan Naheed W, Matsui Hiroko, Alapati Akhila, Raghavendra Pongali B, Roosing Susanne, Sarangapani Sripriya, Mathavan Sinnakaruppan, Telenti Amalio, Heckenlively John R, Riazuddin S Amer, Frazer Kelly A, Sieving Paul A, Ayyagari Radha

Abstract excerpt

Whole genome sequencing (WGS) was performed to identify the variants responsible for inherited retinal degeneration (IRD) in a Caucasian family. Segregation analysis of selected rare variants with pathogenic potential identified a set of compound heterozygous changes p.Arg266*:c.796C>T and p.Ala568Thr:c.1702G>A in the intraflagellar transport protein-88 (IFT88) gene segregating with IRD. Expression of IFT88 with...

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Identifiers

PMID: 29978320
DOI: 10.1007/s00439-018-1897-9
PMCID: PMC6150774

Genes

IFT88

Variants

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