Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran
Journal of Audiology & Otology
;
: 20-26, 2019.
Artigo
em Inglês
| WPRIM
| ID: wpr-740353
ABSTRACT
BACKGROUND AND OBJECTIVES:
Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. SUBJECTS ANDMETHODS:
Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project).RESULTS:
A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p < 0.001).CONCLUSIONS:
Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
DNA
/
Estudos de Coortes
/
Conexinas
/
Repetições de Microssatélites
/
Estudos de Associação Genética
/
Genótipo
/
Audição
/
Perda Auditiva
/
Irã (Geográfico)
Tipo de estudo:
Estudo de etiologia
/
Estudo de incidência
/
Estudo observacional
/
Estudo prognóstico
/
Fatores de risco
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Audiology & Otology
Ano de publicação:
2019
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS