Detection of 35delG, 167delT mutations in the connexin 26 gene among Egyptian patients with nonsyndromic sensorineural hearing loss

Barbary, Nehal E El; Belbesy, Mervat F El; Asal, Samir; Kholeif, Soha

doi:10.4103/1012-5574.152707

Cited by 3 publications

(2 citation statements)

References 34 publications

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“…The present study covered a wider study area, and 35delG was found in 31% of patients with severe to profound hearing loss with a much higher proportion (34.48 vs. 14%) centered in the Giza governorate (center of Egypt). Similarly, we found that 31% of deaf children were heterozygous, which is lower than the previous reports of 57.14% [12,35].…”

Section: Discussioncontrasting

confidence: 61%

Genetic Screening for 35delG Mutation in Egyptian Patients with Profound Sensorineural Hearing Loss Scheduled for Cochlear Implantation: A Population-Based Study

Mostafa

Sawi

Sabry

et al. 2021

ORL

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Objectives: The aim of this work was to assess the type and site of the 35delG gene mutation in patients presenting with profound SNHL and scheduled for cochlear implantation. The secondary objectives were to determine their geographical distribution throughout Egypt, screening of the parents for the mutation, and to correlate the type of mutation with clinical severity and outcomes after surgery. Methods: The study was carried out on 100 consecutive patients scheduled for cochlear implantation. Patients with syndromic hearing loss or noncongenital hearing loss (trauma, infections, and ototoxicity) were excluded. All patients were subjected to detailed history taking including geographic tagging for their origins in Egypt, imaging (CT and MRI cochlear implantation protocols), full audiological evaluation (PTA, ABR, and TEOAE), and genetic screening for GJB2 mutation using Invitrogen PCR mix and ApaI restriction enzyme (North America, CA, 10572-014). The parents of mutation-positive patients were also subjected to audiological and genetic analysis. All patients were subjected to postimplantation evaluation of hearing after 6 and 12 months. Results: There were 64 males and 36 females from 98 families. Ages ranged between 1.9 and 7 years (mean 3.72 years). They originated from all over Egypt but the majority came from the Giza and Cairo areas. The 35delG mutations were found in exon 2 in 31% of the cases and all were heterozygous. In the parents, 18 mothers and 13 fathers were positive but only 8 had mild to moderate SNHL. Hearing evaluation by pure tone and speech discrimination scores at 6 and 12 months showed that the 35delG children had a statistically better result compared to the children without this mutation. Conclusion: The prevalence of the 35delG mutation in nonsyndromic children in this sample was 31% which is different from previous studies in the Egyptian population but close to the values found in other populations in the Mediterranean basin.

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Section: Discussioncontrasting

confidence: 61%

Genetic Screening for 35delG Mutation in Egyptian Patients with Profound Sensorineural Hearing Loss Scheduled for Cochlear Implantation: A Population-Based Study

Mostafa

Sawi

Sabry

et al. 2021

ORL

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“…Moreover, Mohamed et al (2010) found that the allelic frequency of the Cx26 (35delG) mutation in Upper Egypt was 8.7% (27 out of 310 investigated alleles in 155 patients), in which the homozygous patients were 11 and the carrier patients were 5. In addition, El- Barbary et al (2015) reported that four patients were homozygous and four patients were heterozygous out of 51 patients, with allelic frequency of 10.8% for the Cx26 (35delG) in Alexandria, Egypt. Social and environmental variations could have an impact on the expression of this character.…”

Section: Resultsmentioning

confidence: 99%

Screening of the Connexin 26 (35delg) Mutation in Egyptian Patients With Autosomal Recessive Nonsyndromic Deafness and Its Relation to the Patients' Iq

Gaber

Fath

Mohamed

et al. 2018

Egyptian Journal of Genetics and Cytology

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Expanding the phenotypic spectrum in ESRRB related sensorineural hearing loss: Evidence provided via detecting novel nonsense mutation in an Egyptian family

ElBagoury¹,

Ashaat²,

Sharaf-Eldin³

et al. 2022

Human Gene

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Detection of 35delG, 167delT mutations in the connexin 26 gene among Egyptian patients with nonsyndromic sensorineural hearing loss

Cited by 3 publications

References 34 publications

Genetic Screening for 35delG Mutation in Egyptian Patients with Profound Sensorineural Hearing Loss Scheduled for Cochlear Implantation: A Population-Based Study

Genetic Screening for 35delG Mutation in Egyptian Patients with Profound Sensorineural Hearing Loss Scheduled for Cochlear Implantation: A Population-Based Study

Screening of the Connexin 26 (35delg) Mutation in Egyptian Patients With Autosomal Recessive Nonsyndromic Deafness and Its Relation to the Patients' Iq

Expanding the phenotypic spectrum in ESRRB related sensorineural hearing loss: Evidence provided via detecting novel nonsense mutation in an Egyptian family

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