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Article

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

Human molecular genetics - 1 Jun 2026

Sahami Mahtab, Mokhtari Mohammad Javad, Nezafat Navid, Nowroozzadeh Mohammad Hossein, Jafarinia Mojtaba

Abstract excerpt

Cone-Rod Dystrophy with Hearing Loss (CRDHL) is a rare genetic disorder marked by progressive vision and hearing loss. This research explores the genetic changes observed in patients with CRDHL and their subsequent influence on protein functionality. Whole-exome sequencing (WES) was utilized to investigate CRDHL. Carrier screening was performed using Tetra-primer ARMS PCR on 98 relatives, with subsequent Sanger...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42234461
DOI: 10.1093/hmg/ddag033

Genes

CEP78

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Finding and computational analyses of a novel mutation in CEP78 linked to cone-rod dystrophy and hearing loss.PMID 42234461Read ↗

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

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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 ↗

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

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

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

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