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Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6.

Standard

Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6. / Bolz, Hanno; Götz, Schade; Ehmer, Stefanie; Kothe, Christian; Hess, Markus; Gal, Andreas.

in: HEARING RES, Jahrgang 188, Nr. 1-2, 1-2, 2004, S. 42-46.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Bolz, H, Götz, S, Ehmer, S, Kothe, C, Hess, M & Gal, A 2004, 'Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6.', HEARING RES, Jg. 188, Nr. 1-2, 1-2, S. 42-46. <http://www.ncbi.nlm.nih.gov/pubmed/14759569?dopt=Citation>

APA

Bolz, H., Götz, S., Ehmer, S., Kothe, C., Hess, M., & Gal, A. (2004). Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6. HEARING RES, 188(1-2), 42-46. [1-2]. http://www.ncbi.nlm.nih.gov/pubmed/14759569?dopt=Citation

Vancouver

Bolz H, Götz S, Ehmer S, Kothe C, Hess M, Gal A. Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6. HEARING RES. 2004;188(1-2):42-46. 1-2.

Bibtex

@article{d8c4b5d779984052a98b24e5b621ebdc,
title = "Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6.",
abstract = "Mutations in GJB2, encoding the gap junction protein connexin 26, are the most common cause of inherited non-syndromic hearing loss (NSHL), with a broad spectrum of mutations leading to recessive as well as dominant forms. It has been shown that patients who are compound heterozygous for a 342-kb deletion (Delta(GJB6-D13S1830)) involving a large portion of the 5'-part of GJB6, encoding connexin 30, and a GJB2 mutation develop NSHL due to a trait with a digenic pattern of inheritance. We have used a mutation-specific polymerase chain reaction assay to screen NSHL patients for the presence of Delta(GJB6-D13S1830) and identified two families segregating both c.35delG in GJB2 and Delta(GJB6-D13S1830). Remarkably, the severity of hearing loss due to heterozygosity for c.35delG in GJB2 in conjunction with Delta(GJB6-D13S1830) is considerably different in members of the two families, ranging from congenital deafness in one to moderate/severe hearing loss with congenital onset in the other case.",
author = "Hanno Bolz and Schade G{\"o}tz and Stefanie Ehmer and Christian Kothe and Markus Hess and Andreas Gal",
year = "2004",
language = "Deutsch",
volume = "188",
pages = "42--46",
journal = "HEARING RES",
issn = "0378-5955",
publisher = "Elsevier",
number = "1-2",

}

RIS

TY - JOUR

T1 - Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6.

AU - Bolz, Hanno

AU - Götz, Schade

AU - Ehmer, Stefanie

AU - Kothe, Christian

AU - Hess, Markus

AU - Gal, Andreas

PY - 2004

Y1 - 2004

N2 - Mutations in GJB2, encoding the gap junction protein connexin 26, are the most common cause of inherited non-syndromic hearing loss (NSHL), with a broad spectrum of mutations leading to recessive as well as dominant forms. It has been shown that patients who are compound heterozygous for a 342-kb deletion (Delta(GJB6-D13S1830)) involving a large portion of the 5'-part of GJB6, encoding connexin 30, and a GJB2 mutation develop NSHL due to a trait with a digenic pattern of inheritance. We have used a mutation-specific polymerase chain reaction assay to screen NSHL patients for the presence of Delta(GJB6-D13S1830) and identified two families segregating both c.35delG in GJB2 and Delta(GJB6-D13S1830). Remarkably, the severity of hearing loss due to heterozygosity for c.35delG in GJB2 in conjunction with Delta(GJB6-D13S1830) is considerably different in members of the two families, ranging from congenital deafness in one to moderate/severe hearing loss with congenital onset in the other case.

AB - Mutations in GJB2, encoding the gap junction protein connexin 26, are the most common cause of inherited non-syndromic hearing loss (NSHL), with a broad spectrum of mutations leading to recessive as well as dominant forms. It has been shown that patients who are compound heterozygous for a 342-kb deletion (Delta(GJB6-D13S1830)) involving a large portion of the 5'-part of GJB6, encoding connexin 30, and a GJB2 mutation develop NSHL due to a trait with a digenic pattern of inheritance. We have used a mutation-specific polymerase chain reaction assay to screen NSHL patients for the presence of Delta(GJB6-D13S1830) and identified two families segregating both c.35delG in GJB2 and Delta(GJB6-D13S1830). Remarkably, the severity of hearing loss due to heterozygosity for c.35delG in GJB2 in conjunction with Delta(GJB6-D13S1830) is considerably different in members of the two families, ranging from congenital deafness in one to moderate/severe hearing loss with congenital onset in the other case.

M3 - SCORING: Zeitschriftenaufsatz

VL - 188

SP - 42

EP - 46

JO - HEARING RES

JF - HEARING RES

SN - 0378-5955

IS - 1-2

M1 - 1-2

ER -