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Article

Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2016

Soens Zachry T, Li Yuanyuan, Zhao Li, Eblimit Aiden, Dharmat Rachayata, Li Yumei, Chen Yiyun, Naqeeb Mohammed, Fajardo Norma, Lopez Irma, Sun Zhaoxia, Koenekoop Robert K, Chen Rui

Abstract excerpt

PURPOSE: Leber congenital amaurosis (LCA) is an early-onset form of retinal degeneration. Six of the 22 known LCA genes encode photoreceptor ciliary proteins. Despite the identification of 22 LCA genes, the genetic basis of ~30% of LCA patients remains unknown. We sought to investigate the cause of disease in the remaining 30% by examining cilia-associated genes. METHODS: Whole-exome sequencing was performed on...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 26820066
DOI: 10.1038/gim.2015.205
PMCID: PMC4965339

Genes

CLUAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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