TY - JOUR
T1 - Identification of D179H, a novel missense GJB2 mutation in a Western Sicily family
AU - Martines, Francesco
AU - Salvago, Pietro
AU - Bonfiglio, Marco
AU - Malaguarnera, Mariano
AU - Serra, Agostino
AU - Maiolino, Luigi
AU - Cocuzza, Salvatore
AU - Grillo, Calogero
PY - 2013
Y1 - 2013
N2 - The main purpose of this study was to describe a novel missense mutation (p.D179H) found in a Western Sicily family and to examine the genetic and audiologic profiles of all family members by performing a GJB2 and GJB6 mutations analysis and a complete audiologic assessment. The proband was a 3-month-old infant with acongenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of ac.35delG mutation in the heterozygous state and a heterozygous G[C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179. It was also evidenced in the heterozygous state in two members of this family, both with normal hearing. No GJB6 mutations were evidenced in all subjects studied. Considering the genotypic and phenotypic analysis of all family members, we suggest, differently from the p.D179 N mutation previously reported, a recessive mode of inheritance. Functional studies on p.D179H have to be performed to confirm our hypothesis.
AB - The main purpose of this study was to describe a novel missense mutation (p.D179H) found in a Western Sicily family and to examine the genetic and audiologic profiles of all family members by performing a GJB2 and GJB6 mutations analysis and a complete audiologic assessment. The proband was a 3-month-old infant with acongenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of ac.35delG mutation in the heterozygous state and a heterozygous G[C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179. It was also evidenced in the heterozygous state in two members of this family, both with normal hearing. No GJB6 mutations were evidenced in all subjects studied. Considering the genotypic and phenotypic analysis of all family members, we suggest, differently from the p.D179 N mutation previously reported, a recessive mode of inheritance. Functional studies on p.D179H have to be performed to confirm our hypothesis.
UR - http://hdl.handle.net/10447/81723
M3 - Article
VL - 270
SP - 1
EP - 5
JO - Archiv fur klinische und experimentelle Ohren- Nasen- und Kehlkopfheilkunde
JF - Archiv fur klinische und experimentelle Ohren- Nasen- und Kehlkopfheilkunde
SN - 0003-9195
ER -