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Article

Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss.

Genes - 22 Aug 2020

Zafar Saba, Shahzad Mohsin, Ishaq Rafaqat, Yousaf Ayesha, Shaikh Rehan S, Akram Javed, Ahmed Zubair M, Riazuddin Saima

Abstract excerpt

We report the underlying genetic causes of prelingual hearing loss (HL) segregating in eight large consanguineous families, ascertained from the Punjab province of Pakistan. Exome sequencing followed by segregation analysis revealed seven potentially pathogenic variants, including four novel alleles c.257G>A, c.6083A>C, c.89A>G, and c.1249A>G of CLPP, CDH23, COL4A5, and LARS2, respectively. We also identified...

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Identifiers

PMID: 32842620
DOI: 10.3390/genes11090978
PMCID: PMC7564084

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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