Related Experiment Video
Updated: Jul 10, 2026

04:32
Sound Source Localization Testing in Single-sided Deafness Following Bone Conduction Intervention
Published on: December 20, 2024
Sex-linked deafness
M B Petersen1, Q Wang, P J Willems
1Department of Genetics, Institute of Child Health, Athens, Greece.
Clinical Genetics
|November 17, 2007
Summary
Few X-linked genes cause non-syndromic hearing loss, but a Y-linked locus has been discovered. This review covers sex-linked genes on X and Y chromosomes contributing to hearing loss, both syndromic and non-syndromic.
Area of Science:
- Genetics
- Otolaryngology
- Human Disease
Background:
- Hearing loss is often linked to X-chromosome genes, yet few such loci cause non-syndromic forms.
- Disease genes on sex chromosomes are rare, with only a few identified for hearing impairment.
Purpose of the Study:
- To review known sex-linked genes and loci associated with syndromic and non-syndromic hearing loss.
- To highlight the significance of recently identified Y-linked loci for hearing impairment.
Main Methods:
- Literature review of genetic studies on hearing loss.
- Analysis of reported X-linked and Y-linked loci.
- Compilation of data on syndromic and non-syndromic hearing loss genetics.
Main Results:
- While many X-linked loci are associated with syndromic hearing loss, few are linked to non-syndromic forms.
- A Y-linked locus for hearing loss has been identified, which is a rare occurrence for Y-chromosome disease genes.
- This review consolidates information on various sex-linked genetic factors influencing hearing.
Conclusions:
- Sex-linked genes play a role in diverse forms of hearing loss.
- The identification of Y-linked hearing loss loci expands our understanding of genetic contributions to deafness.
- Further research into sex-chromosome genetics is crucial for diagnosing and potentially treating hearing loss.
Related Concept Videos
Sex Linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Pedigree Analysis
Overview

