title: The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness.
abstract: Non-syndromic hearing loss is one of the most common hereditary determined diseases in human, and the disease is a genetically heterogeneous disorder. Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of non-syndromic recessive hearing impairment in many countries and are largely dependent on ethnic groups. Due to the high frequency of the c.35delG GJB2 mutation in the Greek population, we have previously suggested that Greek patients with sensorineural, non-syndromic deafness should be tested for the c.35delG mutation and the coding region of the GJB2 gene should be sequenced in c.35delG heterozygotes. Here we present on the clinical and molecular genetic evaluation of a family suffering from prelingual, sensorineural, non-syndromic deafness. A novel c.247_249delTTC (p.F83del) GJB2 mutation was detected in compound heterozygosity with the c.35delG GJB2 mutation in the proband and was later confirmed in the father, while the mother was homozygous for the c.35delG GJB2 mutation. We conclude that compound heterozygosity of the novel c.247_249delTTC (p.F83del) and the c.35delG mutations in the GJB2 gene was the cause of deafness in the proband and his father.
authors.affiliation: Department of Genetics, Institute of Child Health, Aghia Sophia Children's Hospital, Athens 11527, Greece.
authors.forename: Michael B
authors.initials: MB
authors.lastname: Petersen
authors.forename: Maria
authors.initials: M
authors.lastname: Grigoriadou
authors.forename: Maria
authors.initials: M
authors.lastname: Koutroumpe
authors.forename: Haris
authors.initials: H
authors.lastname: Kokotas
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000208:ethnology / Q000235:genetics*; D006115:Greece / Q000208:ethnology; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D044465:White People / Q000235:genetics
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26