Mutations of the Connexin 26 gene in families with non-syndromic hearing loss

Al‐Achkar, Walid; Moassass, Faten; Al‐Halabi, Bassel; Al-Ablog, Ayman

doi:10.3892/mmr.2011.428

Cited by 19 publications

(13 citation statements)

References 25 publications

(30 reference statements)

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“…The 35delG variant which is common worldwide was detected in 16.7% of Syrian families with nonsyndromic moderate to profound HI. Our results differ from a previous study by Al-Achkar et al who found 35delG mutation in 30% of Syrian families, almost double that in our study [12]. This conflict is probably due to the difference in study areas.…”

Section: Discussioncontrasting

confidence: 99%

Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment

Kaheel¹,

Bress²,

Hassan³

et al. 2017

Genetics Research International

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Background Hearing impairments (HI) are the most common birth defect worldwide. Very large numbers of genes have been identified but the most profound is GJB2. The clinical interest regarding this gene is very pronounced due to its high carrier frequency (0.5–5.4%) across different ethnic groups. This study aimed to determine the prevalence of common GJB2 mutations in Syrian patients with profound sensorineural HI. Methods We carried out PCR, restriction enzyme based screening, and sequencing of 132 Syrian patients diagnosed clinically with hereditary deafness for different GJB2 mutations. Results The result revealed that, in GJB2 gene, c.35delG is the most prevalent among affected studied subjects (13.64%), followed by c.457G>A (2.4%). Conclusion The benefit of this study on the one hand is its first report of prelingual deafness causative gene mutations identified by sequencing technology in the Syrian families. It is obvious from the results that the deployment in biomedical research is highly effective and has a great impact on the ability to uncover the cause of genetic variation in different genetic diseases.

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Section: Discussioncontrasting

confidence: 99%

Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment

Kaheel¹,

Bress²,

Hassan³

et al. 2017

Genetics Research International

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“…According to the procedure of Al-Achkar et al (31), mutation screening was carried out using direct DNA sequence analysis. The coding sequence of the BMP15 gene was amplified by PCR using the primers described in Table 2 (15).…”

Section: Polymerase Chain Reaction and Dna Sequencingmentioning

confidence: 99%

Investigation of some genetic variations in BMP15 accompanied with premature ovarian failure (POF) in Syrian women

Al-Ajoury

Kassem

Al‐Halabi

et al. 2015

Middle East Fertility Society Journal

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Background: Premature ovarian failure (POF) is a primary ovarian defect characterized by absent menarche or premature depletion of ovarian follicles. Bone morphogenetic protein 15 (BMP15) is an oocyte-derived growth factor acting as a major player in follicle differentiation in mammals. Mutations in this gene, lead to defective secretion of bioactive dimmers. The present study was to verify the involvement of BMP15 variations in POF women in Syria.Results: Genetic screening of 65 patients with POF, 55 primary amenorrhea (PA), 10 secondary amenorrhea (SA) and 100 controls of Syrian origin was done. Five variants in six patients were observed, including two missense substitutions: p. N103S

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“…According to the procedure of Al-Achkar et al (11), mutation screening was performed using direct DNA sequence analysis. The whole coding sequence of the SRY gene was amplified by polymerase chain reaction (PCR) using the primers previously described (12).…”

Section: Case Reportmentioning

confidence: 99%

Molecular-cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review

Jiang

Lü

et al. 2017

Molecular Medicine Reports

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The present study describes a 36‑year‑old male with the 45,X/46,X,i(Yq)/46,X,idic(Yq) karyotype, who suffered from azoospermia attributed to maturation arrest of the primary spermatocyte. To the best of our knowledge, this rare karyotype has not yet been reported in the literature. The results of detailed molecular‑cytogenetic studies of isodicentric (idic)Y chromosomes and isochromosome (iso)Y, which are identified in patient with complex mosaic karyotypes, are presented. The presence of mosaicism of the three cell lines 45,X, 46,X,i(Yq) and 46,X,idic(Yq) may be a contributing factor for spermatogenic failure, in addition to the instability of iso/idic Y chromosomes to pass the spermatogenesis process. Possible mechanisms of the formation of the mosaic karyotype and karyotype‑phenotype correlations are discussed. The current study highlights that routine karyotype analysis and fluorescent in situ hybridization‑based technology are more useful in detecting mosaic chromosomal abnormality, predicting the clinical features of patients during genetic counseling and improving artificial reproductive technologies.

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Mutations of the Connexin 26 gene in families with non-syndromic hearing loss

Cited by 19 publications

References 25 publications

Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment

Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment

Investigation of some genetic variations in BMP15 accompanied with premature ovarian failure (POF) in Syrian women

Molecular-cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review

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