Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing

Zarepour, Narges; Koohiyan, Mahbobeh; Taghipour‐Sheshdeh, Afsaneh; Nemati-Zargaran, Fatemeh; Saki, Nader; Mohammadi-Asl, Javad; Tabatabaiefar, Mohammad Amin; Hashemzadeh‐Chaleshtori, Morteza

doi:10.1159/000498843

Cited by 18 publications

(9 citation statements)

References 17 publications

(17 reference statements)

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“…It was concluded that accurate mutational analysis of MYO15A, as the third cause of HL in Iran is of utmost importance for genetic counseling and even prenatal diagnosis. [32] As stated before, traditional approaches are not affordable for clinical applications. The present study con rmed that WES is a reliable rst approach for screening of MYO15A variants in patients with hearing impairments.…”

Section: Resultsmentioning

confidence: 99%

Novel MYO15A Variants are Associated with Hearing Loss in the Two Iranian Pedigrees

Khatami

Askari

Bahreini

et al. 2020

Preprint

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Abstract Background: Clinical genetic diagnosis of non-syndromic hearing loss (NSHL) is quite challenging. With regard to its high heterogeneity as well as large size of some genes, it is also really difficult to detect causative mutations using traditional approaches. One of the recent technologies called whole-exome sequencing (WES) has been thus developed in this domain to remove the limitations of conventional methods.Methods: This study was a report on two unrelated pedigrees with multiple affected cases of hearing loss (HL). Accordingly, clinical evaluations and genetic analysis were performed in both families. Results: The implementation of WES to uncover autosomal recessive non-syndromic hearing loss (ARNSHL) and its related variants was reported in the present study. Two novel variants of MYO15A i.e. c.T6442A:p.W2148R and c.10504dupT:p.C3502Lfs*15 were correspondingly identified and then segregations were confirmed using Sanger sequencing. According to online prediction tools, both identified variants seemed to have damaging effects.Conclusion: This study further supported the effectiveness of WES for genetic diagnosis of ARNSHL as a first approach.

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Section: Resultsmentioning

confidence: 99%

Novel MYO15A Variants are Associated with Hearing Loss in the Two Iranian Pedigrees

Khatami

Askari

Bahreini

et al. 2020

Preprint

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“…The identification of genes causing non-syndromic hearing Loss (NSHL) has partially resolved the puzzle of clinical and genetic heterogeneity of HL (33)(34)(35). Among these genes the gene with the most significant impact on population genetics and genetic counselling is the GJB2 gene with the mutation c.35delG that accounts for the majority of mutations in deaf Caucasians (12).…”

Section: Discussionmentioning

confidence: 99%

Genetics of hereditary hearing loss in east Iran population: A systematic review of <i>GJB2</i> mutations

Koohiyan

Azadegan‐Dehkordi

Koohian

et al. 2019

IRDR

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Mutations in the GJB2 gene are the most common cause of pre-lingual hearing loss (HL) worldwide. Previous studies have shown the frequency of GJB2 mutations to be 16% in Iran, but varies among different ethnic groups. Here, we have reviewed results from previous published mutation reports to provide a comprehensive collection of data for GJB2 mutations and HL in eastern Iran. We conducted a systematic literature review of PubMed, Google Scholar, Web of Science, and Science Direct databases for articles published before March, 2019. The literature search was performed by 2 independent researchers. The primary data of these studies including the number of samples, allelic frequency, and so on were extracted. Six studies involving 812 unrelated families from four different eastern provinces were included and analyzed for the type and prevalence of GJB2 mutations. A total of 19 different genetic variants were detected. GJB2 mutations were 8.8% in the studied eastern provinces, which was lower than that reported in northern populations of Iran. Moreover, a gradient in the frequency of GJB2 mutations from north to south Iran was observed. c.35delG was the most frequent mutation, accounting for 48.5% % of the populations studied. However, this mutation was absent in the Baluchi population. This review shows that particular rare mutations are frequent in some Iranian ethnic groups, and should be considered for genetic counselling.

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“…This study included results from our three previous publications on GJB2-related HL in Iran [19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36]. We also performed a PubMed, Web of Science, and Google Scholar search using the search terms "GJB2 mutations", "connexin 26", and "Iran".…”

Section: Methodsmentioning

confidence: 99%

“…In individuals of Indian and Pakistani ancestry, c.71G>A is the common GJB2 variant [3]. Over the last decade, several studies have been conducted on the Iranian population to identify the mutation spectrum and prevalence of GJB2 mutations [13][14][15][16][17][18][19][20][21][22][23]. The different ethnicities coupled with the high frequency of familial marriages (38% on an average) [24] tend to change mutation frequencies among the ethnic groups [25].…”

Section: Introductionmentioning

confidence: 99%

Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations

et al. 2019

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Diagnosis of pre-lingual hearing loss (HL) is difficult owing to the high number of genes responsible. The most frequent cause of HL is DFNB1 due to mutations in the GJB2 gene. It represents up to 40% of HL cases in some populations. In Iran, it has previously been shown that DFNB1 accounts for 16-18% of cases but varies among different ethnic groups. Here, we reviewed results from our three previous publications and data from other published mutation reports to provide a comprehensive collection of data for GJB2 mutations and HL in northern Iran. In total, 903 unrelated families from six different provinces, viz., Gilan, Mazandaran, Golestan, Ghazvin, Semnan, and Tehran, were included and analyzed for the type and prevalence of GJB2 mutations. A total of 23 different genetic variants were detected from which 18 GJB2 mutations were identified. GJB2 mutations were 20.7% in the studied northern provinces, which was significantly higher than that reported in southern populations of Iran. Moreover, a gradient in the frequency of GJB2 mutations from north to south Iran was observed. c.35delG was the most common mutation, accounting for 58.4% of the cases studied. This study suggests that c.35delG mutation in GJB2 is the most important cause of HL in northern Iran.

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Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing

Cited by 18 publications

References 17 publications

Novel MYO15A Variants are Associated with Hearing Loss in the Two Iranian Pedigrees

Novel MYO15A Variants are Associated with Hearing Loss in the Two Iranian Pedigrees

Genetics of hereditary hearing loss in east Iran population: A systematic review of <i>GJB2</i> mutations

Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations

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