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Article

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.

American journal of human genetics - 1 Sept 2016

Namburi Prasanthi, Ratnapriya Rinki, Khateb Samer, Lazar Csilla H, Kinarty Yael, Obolensky Alexey, Erdinest Inbar, Marks-Ohana Devorah, Pras Eran, Ben-Yosef Tamar, Newman Hadas, Gross Menachem, Swaroop Anand, Banin Eyal, Sharon Dror

Abstract excerpt

Inherited retinal diseases (IRDs) are a diverse group of genetically and clinically heterogeneous retinal abnormalities. The present study was designed to identify genetic defects in individuals with an uncommon combination of autosomal recessive progressive cone-rod degeneration accompanied by sensorineural hearing loss (arCRD-SNHL). Homozygosity mapping followed by whole-exome sequencing (WES) and founder...

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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: 27588452
DOI: 10.1016/j.ajhg.2016.07.010
PMCID: PMC5011076

Genes

CEP78

Variants

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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Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.PMID 27588452Read ↗

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.Semantic proximity Read ↗

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing LossSemantic proximity Read ↗

Exploring the diverse clinical and variant spectrum of CEP78-associated syndrome: Novel pathogenic variants identified in a case series.Semantic proximity Read ↗

A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.Semantic proximity Read ↗

A Novel CEP78 Variant Presenting as Cone Dystrophy and Hearing Loss.Semantic proximity Read ↗

Finding and computational analyses of a novel mutation in CEP78 linked to cone-rod dystrophy and hearing loss.Semantic proximity Read ↗

The phenotypic spectrum of CEP250 gene variants.Semantic proximity Read ↗

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.Semantic proximity Read ↗

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Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with Mild PhenotypeSemantic proximity Read ↗

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