DIVERSE PATTERN OF GAP JUNCTION BETA‑2 AND GAP JUNCTION BETA‑4 GENES MUTATIONS AND LACK OF CONTRIBUTION OF DFNB21, DFNB24, DFNB29, AND DFNB42 LOCI IN AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS PATIENTS IN HORMOZGAN, IRAN

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AKBARZADEH LALEH MASOUD; NASERI MARZIEH; POURSADEGH ZONOUZI ALI AKBAR; POURSADEGH ZONOUZI AHMAD; MASOUDI MARJAN; ahangari najmeh; Shams Leila; NEJATIZADEH AZIM

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Journal: JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS) Year:2017 | Volume:22 | Issue:8 Page(s): 0-0

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Title

DIVERSE PATTERN OF GAP JUNCTION BETA‑2 AND GAP JUNCTION BETA‑4 GENES MUTATIONS AND LACK OF CONTRIBUTION OF DFNB21, DFNB24, DFNB29, AND DFNB42 LOCI IN AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS PATIENTS IN HORMOZGAN, IRAN

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Keywords

CONNEXIN 30.3

DEAFNESS

GAP JUNCTION BETA‑2

LINKAGE ANALYSIS

Abstract

Background: We aimed to determine the contribution of four DFNB loci and mutation analysis of GAP JUNCTION BETA‑2 (GJB2) andGJB4 genes in autosomal recessive nonsyndromic hearing loss (ARNSHL) in South of Iran. Materials and Methods: A total of 36 large ARNSHL pedigrees with at least two affected subjects were enrolled in the current study. TheGJB2 and GJB4 genes mutations were screened using direct sequencing method. TheGJB2 and GJB4 negative families were analyzed for the linkage to DFNB21, DFNB24, DFNB29, and DFNB42 loci by genotyping the corresponding STR markers using polymerase chain reaction‑PAGE method.Results: We found a homozygous nonsense mutation W77X and a homozygous missense mutation C169W in 5.55% of studied families inGJB2 and GJB4 genes, respectively. Five heterozygous mutations including V63G, A78T, and R127H in GJB2 gene, and R103C and R227W inGJB4 gene were detected. We identified two novel variations V63G in GJB2 and R227W in GJB4. In silico analysis predicted that both novel variations are deleterious mutations. We did not unveil any linkage between DFNB21, DFNB24, DFNB29, and DFNB42 loci and ARNSHL among studied families.Conclusion: This is the first report of GJB2 and GJB4 mutations from Hormozgan population. According to the previous publications regardingGJB2 and GJB4 mutations, the distribution of the mutations is different from other parts of Iran that should be considered in primary health‑care programs. Further investigations are needed to evaluate the contribution of other loci in ARNSHL subjects in South of Iran.

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APA: Copy

AKBARZADEH LALEH, MASOUD, NASERI, MARZIEH, POURSADEGH ZONOUZI, ALI AKBAR, POURSADEGH ZONOUZI, AHMAD, MASOUDI, MARJAN, ahangari, najmeh, Shams, Leila, & NEJATIZADEH, AZIM. (2017). DIVERSE PATTERN OF GAP JUNCTION BETA?2 AND GAP JUNCTION BETA?4 GENES MUTATIONS AND LACK OF CONTRIBUTION OF DFNB21, DFNB24, DFNB29, AND DFNB42 LOCI IN AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS PATIENTS IN HORMOZGAN, IRAN. JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS), 22(8), 0-0. SID. https://sid.ir/paper/690349/en

Vancouver: Copy

AKBARZADEH LALEH MASOUD, NASERI MARZIEH, POURSADEGH ZONOUZI ALI AKBAR, POURSADEGH ZONOUZI AHMAD, MASOUDI MARJAN, ahangari najmeh, Shams Leila, NEJATIZADEH AZIM. DIVERSE PATTERN OF GAP JUNCTION BETA?2 AND GAP JUNCTION BETA?4 GENES MUTATIONS AND LACK OF CONTRIBUTION OF DFNB21, DFNB24, DFNB29, AND DFNB42 LOCI IN AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS PATIENTS IN HORMOZGAN, IRAN. JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS)[Internet]. 2017;22(8):0-0. Available from: https://sid.ir/paper/690349/en

IEEE: Copy

MASOUD AKBARZADEH LALEH, MARZIEH NASERI, ALI AKBAR POURSADEGH ZONOUZI, AHMAD POURSADEGH ZONOUZI, MARJAN MASOUDI, najmeh ahangari, Leila Shams, and AZIM NEJATIZADEH, “DIVERSE PATTERN OF GAP JUNCTION BETA?2 AND GAP JUNCTION BETA?4 GENES MUTATIONS AND LACK OF CONTRIBUTION OF DFNB21, DFNB24, DFNB29, AND DFNB42 LOCI IN AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS PATIENTS IN HORMOZGAN, IRAN,” JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS), vol. 22, no. 8, pp. 0–0, 2017, [Online]. Available: https://sid.ir/paper/690349/en

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