Relation Between Choice of Partner and High Frequency of Connexin-26 Deafness

Overview

Journal Lancet

Publisher Elsevier

Specialty General Medicine

Date 2000 Sep 12

PMID 10981905

Citations 22

Authors

W E Nance

X Z Liu

A Pandya

Affiliations

Soon will be listed here.

Abstract

Recessive mutations at the connexin-26 gene locus are now recognised as the cause of nearly half of all cases of genetic deafness in many populations. We suggest that this high frequency is only seen in populations with a long tradition of intermarriage among deaf people. Available data are consistent with the hypothesis that such marriages might well have contributed to the high frequency of connexin-26 deafness in the USA, and could represent a novel mechanism for maintaining specific genotypes at unexpectedly high frequencies.

Citing Articles

Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.

Aboagye E, Adadey S, Wonkam-Tingang E, Amenga-Etego L, Awandare G, Wonkam A Genes (Basel). 2023; 14(2).

PMID: 36833326 PMC: 9957346. DOI: 10.3390/genes14020399.

Age Estimate of -p.(Arg143Trp) Founder Variant in Hearing Impairment in Ghana, Suggests Multiple Independent Origins across Populations.

Aboagye E, Adadey S, Esoh K, Jonas M, de Kock C, Amenga-Etego L Biology (Basel). 2022; 11(3).

PMID: 35336849 PMC: 8945073. DOI: 10.3390/biology11030476.

Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population.

Romanov G, Smirnova A, Zamyatin V, Mukhin A, Kazantsev F, Pshennikova V Biology (Basel). 2022; 11(2).

PMID: 35205123 PMC: 8869167. DOI: 10.3390/biology11020257.

Deaf intermarriage has limited effect on the prevalence of recessive deafness and no effect on underlying allelic frequency.

Braun D, Jain S, Epstein E, Greenwald B, Herold B, Gray M PLoS One. 2020; 15(11):e0241609.

PMID: 33147256 PMC: 7641374. DOI: 10.1371/journal.pone.0241609.

Unique Mutational Spectrum of the Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys).

Posukh O, Zytsar M, Bady-Khoo M, Danilchenko V, Maslova E, Barashkov N Genes (Basel). 2019; 10(6).

PMID: 31195736 PMC: 6627114. DOI: 10.3390/genes10060429.