Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene

Mustafa Tekin, T. Duman, G. Boǧoçlu, A. Incesulu, Ş Cin, N. Akar

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Mutations in the GJB2 (connexin 26-Cx26) gene are responsible for 20-50% of cases with prelingual non-syndromic deafness in a large part of the world including Turkey. Although most of the cases with Cx26 deafness have a recessive mode of inheritance, a small group of families demonstrated dominant or pseudodominant inheritance. In this report we present a Turkish family in which the proband had congenital profound deafness and was found to be homozygous for the 35delG mutation, whereas the father and a paternal uncle who had milder, late-onset sensorineural hearing loss had compound heterozygous 35delG and L90P mutations. This family and previous reports with the L90P mutation demonstrate that the hearing loss associated with the L90P/35delG genotype is consistently milder than that of 35delG homozygotes. GJB2 gene screening should be considered in families with seemingly dominant inheritance and late-onset moderate hearing loss.

Original languageEnglish
Pages (from-to)379-386
Number of pages8
JournalGenetic Counseling
Volume14
Issue number4
StatePublished - Dec 1 2003
Externally publishedYes

Fingerprint

Hearing Loss
Deafness
Mutation
Genes
Sensorineural Hearing Loss
Homozygote
Turkey
Fathers
Genotype
Connexin 26

Keywords

  • Connexin 26
  • Deafness
  • Genotype-phenotype
  • L90P mutation
  • Pseudodominant inheritance

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene. / Tekin, Mustafa; Duman, T.; Boǧoçlu, G.; Incesulu, A.; Cin, Ş; Akar, N.

In: Genetic Counseling, Vol. 14, No. 4, 01.12.2003, p. 379-386.

Research output: Contribution to journalArticle

Tekin, M, Duman, T, Boǧoçlu, G, Incesulu, A, Cin, Ş & Akar, N 2003, 'Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene', Genetic Counseling, vol. 14, no. 4, pp. 379-386.
Tekin, Mustafa ; Duman, T. ; Boǧoçlu, G. ; Incesulu, A. ; Cin, Ş ; Akar, N. / Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene. In: Genetic Counseling. 2003 ; Vol. 14, No. 4. pp. 379-386.
@article{8967f973768947a98fb32883b542e5cb,
title = "Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene",
abstract = "Mutations in the GJB2 (connexin 26-Cx26) gene are responsible for 20-50{\%} of cases with prelingual non-syndromic deafness in a large part of the world including Turkey. Although most of the cases with Cx26 deafness have a recessive mode of inheritance, a small group of families demonstrated dominant or pseudodominant inheritance. In this report we present a Turkish family in which the proband had congenital profound deafness and was found to be homozygous for the 35delG mutation, whereas the father and a paternal uncle who had milder, late-onset sensorineural hearing loss had compound heterozygous 35delG and L90P mutations. This family and previous reports with the L90P mutation demonstrate that the hearing loss associated with the L90P/35delG genotype is consistently milder than that of 35delG homozygotes. GJB2 gene screening should be considered in families with seemingly dominant inheritance and late-onset moderate hearing loss.",
keywords = "Connexin 26, Deafness, Genotype-phenotype, L90P mutation, Pseudodominant inheritance",
author = "Mustafa Tekin and T. Duman and G. Boǧo{\cc}lu and A. Incesulu and Ş Cin and N. Akar",
year = "2003",
month = "12",
day = "1",
language = "English",
volume = "14",
pages = "379--386",
journal = "Journal de Genetique Humaine",
issn = "1015-8146",
publisher = "Editions Medecine et Hygiene",
number = "4",

}

TY - JOUR

T1 - Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene

AU - Tekin, Mustafa

AU - Duman, T.

AU - Boǧoçlu, G.

AU - Incesulu, A.

AU - Cin, Ş

AU - Akar, N.

PY - 2003/12/1

Y1 - 2003/12/1

N2 - Mutations in the GJB2 (connexin 26-Cx26) gene are responsible for 20-50% of cases with prelingual non-syndromic deafness in a large part of the world including Turkey. Although most of the cases with Cx26 deafness have a recessive mode of inheritance, a small group of families demonstrated dominant or pseudodominant inheritance. In this report we present a Turkish family in which the proband had congenital profound deafness and was found to be homozygous for the 35delG mutation, whereas the father and a paternal uncle who had milder, late-onset sensorineural hearing loss had compound heterozygous 35delG and L90P mutations. This family and previous reports with the L90P mutation demonstrate that the hearing loss associated with the L90P/35delG genotype is consistently milder than that of 35delG homozygotes. GJB2 gene screening should be considered in families with seemingly dominant inheritance and late-onset moderate hearing loss.

AB - Mutations in the GJB2 (connexin 26-Cx26) gene are responsible for 20-50% of cases with prelingual non-syndromic deafness in a large part of the world including Turkey. Although most of the cases with Cx26 deafness have a recessive mode of inheritance, a small group of families demonstrated dominant or pseudodominant inheritance. In this report we present a Turkish family in which the proband had congenital profound deafness and was found to be homozygous for the 35delG mutation, whereas the father and a paternal uncle who had milder, late-onset sensorineural hearing loss had compound heterozygous 35delG and L90P mutations. This family and previous reports with the L90P mutation demonstrate that the hearing loss associated with the L90P/35delG genotype is consistently milder than that of 35delG homozygotes. GJB2 gene screening should be considered in families with seemingly dominant inheritance and late-onset moderate hearing loss.

KW - Connexin 26

KW - Deafness

KW - Genotype-phenotype

KW - L90P mutation

KW - Pseudodominant inheritance

UR - http://www.scopus.com/inward/record.url?scp=0348155637&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0348155637&partnerID=8YFLogxK

M3 - Article

C2 - 14738110

AN - SCOPUS:0348155637

VL - 14

SP - 379

EP - 386

JO - Journal de Genetique Humaine

JF - Journal de Genetique Humaine

SN - 1015-8146

IS - 4

ER -