Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss

Yoong, S. Y.; Mavrogiannis, Lampros A.; Wright, John; Fairley, Lesley; Bennett, Christopher; Charlton, Ruth; Spencer, Nick

doi:10.1136/adc.2010.209262

Cited by 9 publications

(4 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Other studies have shown differences in genes coding for deafness in certain ethnic minorities [16][17][18][19][20]. Alternative explanations could be infections, prematurity, and neonatal complications [21], but this is less likely in view of the evenly distributed comorbidity in the present study.…”

Section: Incidence Rate Of Cochlear Implant Versus Ethnicitycontrasting

confidence: 59%

The impact of ethnicity on cochlear implantation in Norwegian children

Amundsen

Wie

Myhrum

et al. 2017

International Journal of Pediatric Otorhinolaryngology

View full text Add to dashboard Cite

The incidence of CI was significantly higher in children with a non-Nordic vs. a Nordic ethnicity, reflecting a higher incidence of profound deafness. Children born in Norway have equal access to CIs regardless of their ethnicity, but despite being born and receiving care in Norway, prelingually deaf children with non-Nordic parents are at risk of receiving CI later than Nordic children. Moreover, prelingually deaf children who arrive in Norway at an older age may be at risk for a worse prognosis after receiving a CI due to lack of auditory stimulation in early childhood, which is critical for language development and late implantation; this is a serious issue with regard to deafness among refugees.

show abstract

Section: Incidence Rate Of Cochlear Implant Versus Ethnicitycontrasting

confidence: 59%

The impact of ethnicity on cochlear implantation in Norwegian children

Amundsen

Wie

Myhrum

et al. 2017

International Journal of Pediatric Otorhinolaryngology

View full text Add to dashboard Cite

show abstract

“…In our studied populations, the most common mutation was c.35delG, accounting for 43% of GJB2 mutations. The c.35delG mutation is found to be the most common mutation in many world populations as well as many countries in the Middle East (Adhikary et al., ; Al‐Qahtani et al., ; Ghasemnejad, Khaniani, Zarei, Farbodnia, & Derakhsahan, ; Vozzi et al., ; Yoong et al., ). The analysis of the geographical distribution of mutations located in the GJB2 gene showed more allelic heterogeneity in central compared to southern Iran (Esmaeili, Bonyadi, & Nejadkazem, ; Mahdieh et al., ).…”

Section: Discussionmentioning

confidence: 99%

GJB2‐related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations

Koohiyan

Koohian

Azadegan‐Dehkordi

2019

Annals of Human Genetics

View full text Add to dashboard Cite

Mutations in the GJB2 gene are a main cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL) in many populations. Previous studies have estimated the average frequency of GJB2 mutations to be ∼16% in Iran, but would vary among different ethnic groups. Here, we have taken together and reviewed results from our two previous publications and data from searching other published mutation reports to provide a comprehensive collection of data for GJB2 mutations and HL in central Iran. In all, 332 unrelated families were included and analyzed for the prevalence and type of the GJB2 gene mutations. In total, the frequency of GJB2 mutations was found to be 16% in the central provinces, which is significantly higher than those identified in southern populations of Iran. Also, c.35delG was the most frequent mutation in the related population. The present study suggests that mutations in the GJB2 gene, especially c.35delG, are important causes of HL in central Iran and can be used as a basis of genetic counseling and clinical guidelines in this region.

show abstract

“…Mutations in GJB2 account for 6.9% (95%confidence interval, 3.2–10.4%), of moderate to profound deafness in Pakistanis living in the UK, as inferred from analyses of samples from 123 sib pairs [8]. However, the contribution of GJB2 mutations to deafness in Pakistan was reported to be as high as 53%, (95% confidence interval, 35–71%), in a study involving 30 families with severe to profound deafness [9].…”

Section: Introductionmentioning

confidence: 99%

Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan

Salman

Bashir

Imtiaz

et al. 2015

Eur Arch Otorhinolaryngol

View full text Add to dashboard Cite

Mutations of GJB2 which encodes connexin 26, contribute to 6–7% of profound deafness in Pakistan. We investigated the involvement of GJB2 mutations in a cohort of 84 pedigrees and 86 sporadic individuals with moderate or severe hearing loss. Individuals in eight consanguineous families and four sporadic cases (9.52% and 4.65%, respectively) were homozygous or compound heterozygous for p.W24X or p. W77X mutations in GJB2. These two variants are also among the most common mutations known to cause profound deafness in South Asia. The association of identical mutations with both profound and less severe phenotype of hearing loss suggests that alleles of other genes modify the phenotype due to these GJB2 nonsense mutations. Our study demonstrates that GJB2 mutations are an important contributor to aetiology of moderate to severe hearing loss in Pakistan.

show abstract

Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss

Cited by 9 publications

References 35 publications

The impact of ethnicity on cochlear implantation in Norwegian children

The impact of ethnicity on cochlear implantation in Norwegian children

GJB2‐related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations

Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan

Contact Info

Product

Resources

About