title: High level of intrafamilial phenotypic variability of non-syndromic hearing loss in a Lur family due to delE120 mutation in GJB2 gene.
abstract: Hearing loss is the most common sensory defect in the world. The genetic basis of this condition is very complex. Molecular variations in GJB2 gene are the common cause of hearing impairment in Caucasians. One expects that affected members of a family with same mutation have similar phenotype. Here, we report phenotypic variability in hearing loss among the members of a Lur family. Two brothers from a Lur family from Lurestan province in western Iran with variable degrees of nonsyndromic sensorineural hearing loss were evaluated for genetic counseling. Clinical examinations, audiological tests and molecular studies including GJB2 gene sequencing and detection of Delta(GJB6-D13S1830) deletion were performed. Sequencing analysis of GJB2 gene revealed delE120 mutation in both brothers in homozygous form. Since one of them was profoundly deaf and the other was mild hearing loss and had normal conversation, we were expecting different genotypes or other causative effects. Delta(GJB6-D13S1830) was not found. Phenotypic variability between members of different families with the same type of mutation can be expected which may be due to the role of different modifying factors, unrecognized gap junction isoforms, or polymorphism effects.
authors.affiliation: Department of Medical Genetics, School of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
authors.forename: Nejat
authors.initials: N
authors.lastname: Mahdieh
authors.forename: Hamideh
authors.initials: H
authors.lastname: Bagherian
authors.forename: Atefeh
authors.initials: A
authors.lastname: Shirkavand
authors.forename: Maryam
authors.initials: M
authors.lastname: Sharafi
authors.forename: Sirous
authors.initials: S
authors.lastname: Zeinali
mesh_terms: D000293:Adolescent; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003241:Consanguinity; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007492:Iran; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26