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Mutations

Mutations

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Related Experiment Video

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Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea

Published on: February 21, 2016

Mutations in CLDN14 are associated with different hearing thresholds.

Rasheeda Bashir¹, Amara Fatima, Sadaf Naz

¹School of Biological Sciences, University of the Punjab, Lahore, Pakistan.

Journal of Human Genetics

|September 3, 2010

Summary

Mutations in the CLDN14 gene can cause varying degrees of hearing loss (HL), not just profound deafness. This study suggests CLDN14 mutations should be investigated for non-profound HL cases.

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Area of Science:

Genetics
Otolaryngology
Molecular Biology

Background:

Mutations in CLDN14, encoding tight junction protein claudin 14, are known to cause profound deafness.
Previously reported families with CLDN14 mutations exhibited profound hearing loss (HL).

Purpose of the Study:

To investigate the contribution of CLDN14 to non-profound forms of hearing loss.
To screen for CLDN14 mutations in Pakistani individuals with moderate to severe HL.

Main Methods:

Genetic screening of CLDN14 in 30 multiplex and 57 sporadic cases of moderate to severe HL from Pakistan.
Genotyping of affected individuals for the known pathogenic mutation c.254 T>A (p.V85D) in CLDN14.
Audiometric data comparison across all identified patients.

Main Results:

Identified individuals homozygous for the CLDN14 p.V85D mutation, exhibiting severe HL, contrasting with profound HL in previous reports.
Audiometric analysis revealed that CLDN14 mutations can cause a spectrum of HL severity, potentially influenced by high-frequency thresholds.
Evidence suggests the presence of genetic modifiers influencing HL severity in CLDN14-associated deafness.

Conclusions:

CLDN14 mutations are associated with a wider range of HL severity than previously understood.
CLDN14 should be considered in the etiological investigation of non-profound hearing loss.
Genetic modifiers may play a role in modulating the phenotypic expression of CLDN14-related HL.