A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family

Maria Stella Alemanno; Elona Cama; Rosamaria Santarelli; Massimo Carella; Leopoldo Zelante; Luisa Toffolatti; Teresa Palladino; Salvatore Melchionda; Edoardo Arslan

doi:10.1016/j.ijporl.2008.09.019

A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family

Maria Stella Alemanno, Elona Cama, Rosamaria Santarelli, Massimo Carella, Leopoldo Zelante, Luisa Toffolatti, Teresa Palladino, Salvatore Melchionda, Edoardo Arslan

IRCCS Casa Sollievo della Sofferenza

Research output: Contribution to journal › Article › peer-review

Abstract

Nonsyndromic sensorineural hearing impairment is inherited in a predominantly autosomal recessive manner in up to 70% of cases. The gene more often involved is GJB2, encoding the gap junction protein Connexin 26. We report here a novel missense mutation in the GJB2 gene found in a Tunisian family. A homozygous change C/G at nucleotide 263 was detected in the 4-year-old girl of this family, affected by congenital moderate hearing loss. This transversion leads to the replacement of a highly conserved alanine with glycine at codon 88 (A88G). The consanguineous parents of the child are healthy carriers of the mutation.

Original language	English
Pages (from-to)	127-131
Number of pages	5
Journal	International Journal of Pediatric Otorhinolaryngology
Volume	73
Issue number	1
DOIs	https://doi.org/10.1016/j.ijporl.2008.09.019
Publication status	Published - Jan 2009

Keywords

Autosomal recessive hearing loss
Connexin 26
Consanguinity
GJB2
Novel mutation

ASJC Scopus subject areas

Otorhinolaryngology
Pediatrics, Perinatology, and Child Health

Access to Document

10.1016/j.ijporl.2008.09.019

Fingerprint Dive into the research topics of 'A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family'. Together they form a unique fingerprint.

Cite this

Alemanno, M. S., Cama, E., Santarelli, R., Carella, M., Zelante, L., Toffolatti, L., Palladino, T., Melchionda, S., & Arslan, E. (2009). A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family. International Journal of Pediatric Otorhinolaryngology, 73(1), 127-131. https://doi.org/10.1016/j.ijporl.2008.09.019

A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family. / Alemanno, Maria Stella; Cama, Elona; Santarelli, Rosamaria; Carella, Massimo; Zelante, Leopoldo; Toffolatti, Luisa; Palladino, Teresa; Melchionda, Salvatore; Arslan, Edoardo.

In: International Journal of Pediatric Otorhinolaryngology, Vol. 73, No. 1, 01.2009, p. 127-131.

Research output: Contribution to journal › Article › peer-review

Alemanno, MS, Cama, E, Santarelli, R, Carella, M, Zelante, L, Toffolatti, L, Palladino, T, Melchionda, S & Arslan, E 2009, 'A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family', International Journal of Pediatric Otorhinolaryngology, vol. 73, no. 1, pp. 127-131. https://doi.org/10.1016/j.ijporl.2008.09.019

Alemanno, Maria Stella ; Cama, Elona ; Santarelli, Rosamaria ; Carella, Massimo ; Zelante, Leopoldo ; Toffolatti, Luisa ; Palladino, Teresa ; Melchionda, Salvatore ; Arslan, Edoardo. / A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family. In: International Journal of Pediatric Otorhinolaryngology. 2009 ; Vol. 73, No. 1. pp. 127-131.

@article{da7f289ba3b948fca37cd9298a391e37,

title = "A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family",

abstract = "Nonsyndromic sensorineural hearing impairment is inherited in a predominantly autosomal recessive manner in up to 70% of cases. The gene more often involved is GJB2, encoding the gap junction protein Connexin 26. We report here a novel missense mutation in the GJB2 gene found in a Tunisian family. A homozygous change C/G at nucleotide 263 was detected in the 4-year-old girl of this family, affected by congenital moderate hearing loss. This transversion leads to the replacement of a highly conserved alanine with glycine at codon 88 (A88G). The consanguineous parents of the child are healthy carriers of the mutation.",

keywords = "Autosomal recessive hearing loss, Connexin 26, Consanguinity, GJB2, Novel mutation",

author = "Alemanno, {Maria Stella} and Elona Cama and Rosamaria Santarelli and Massimo Carella and Leopoldo Zelante and Luisa Toffolatti and Teresa Palladino and Salvatore Melchionda and Edoardo Arslan",

year = "2009",

month = jan,

doi = "10.1016/j.ijporl.2008.09.019",

language = "English",

volume = "73",

pages = "127--131",

journal = "International Journal of Pediatric Otorhinolaryngology",

issn = "0165-5876",

publisher = "Elsevier Ireland Ltd",

number = "1",

}

TY - JOUR

T1 - A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family

AU - Alemanno, Maria Stella

AU - Cama, Elona

AU - Santarelli, Rosamaria

AU - Carella, Massimo

AU - Zelante, Leopoldo

AU - Toffolatti, Luisa

AU - Palladino, Teresa

AU - Melchionda, Salvatore

AU - Arslan, Edoardo

PY - 2009/1

Y1 - 2009/1

N2 - Nonsyndromic sensorineural hearing impairment is inherited in a predominantly autosomal recessive manner in up to 70% of cases. The gene more often involved is GJB2, encoding the gap junction protein Connexin 26. We report here a novel missense mutation in the GJB2 gene found in a Tunisian family. A homozygous change C/G at nucleotide 263 was detected in the 4-year-old girl of this family, affected by congenital moderate hearing loss. This transversion leads to the replacement of a highly conserved alanine with glycine at codon 88 (A88G). The consanguineous parents of the child are healthy carriers of the mutation.

AB - Nonsyndromic sensorineural hearing impairment is inherited in a predominantly autosomal recessive manner in up to 70% of cases. The gene more often involved is GJB2, encoding the gap junction protein Connexin 26. We report here a novel missense mutation in the GJB2 gene found in a Tunisian family. A homozygous change C/G at nucleotide 263 was detected in the 4-year-old girl of this family, affected by congenital moderate hearing loss. This transversion leads to the replacement of a highly conserved alanine with glycine at codon 88 (A88G). The consanguineous parents of the child are healthy carriers of the mutation.

KW - Autosomal recessive hearing loss

KW - Connexin 26

KW - Consanguinity

KW - GJB2

KW - Novel mutation

UR - http://www.scopus.com/inward/record.url?scp=57149105887&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=57149105887&partnerID=8YFLogxK

U2 - 10.1016/j.ijporl.2008.09.019

DO - 10.1016/j.ijporl.2008.09.019

M3 - Article

C2 - 18990456

AN - SCOPUS:57149105887

VL - 73

SP - 127

EP - 131

JO - International Journal of Pediatric Otorhinolaryngology

JF - International Journal of Pediatric Otorhinolaryngology

SN - 0165-5876

IS - 1

ER -