LINKAGE ANALYSIS FOR 50 IRANIAN FAMILIES WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS FOR DFNB21 LOCUS

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IMANIRAD P.; KAHRIZI K.; BAZAZZADEGAN N.; MOHSENI M.; ASADI G.; NIKZAT N.; ESTEGHAMAT F.; NAJMABAD H.

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Journal: Archives of Rehabilitation (Journal of Rehabilitation) Year:2006 | Volume:7 | Issue:1 (24) Page(s): 49-52

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Title

LINKAGE ANALYSIS FOR 50 IRANIAN FAMILIES WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS FOR DFNB21 LOCUS

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Keywords

NON SYNDROMIC HEARING LOSSQ3

AUTOSOMAL RECESSIVEQ3

DFNB21 LOCUSQ3

LINKGAGE ANALYSISQ3

IRANIAN FAMILIESQ3

Abstract

Objective: Congenital hearing loss occurs in 1 out of 1000 births and about 50% of all cases are estimated to be of genetic origin. About 70% of hereditary hearing loss is non-syndromic with AUTOSOMAL RECESSIVE inheritance accounting for 80% of the genetic load. To assess the importance of other loci in the Iranian population, we screened 50 consanguineous families with ARNSHL for DFNB21, which was linked to ARNSHL in Middle East countries.Materials and Methods: 50 consanguineous families with at least three affected children, previously excluded by mutational analysis from GJB2 and GJB6 genes, were included in this study. We used three polymorphic markers including D11S1998, D11S4464, and D11S1299 in this study.Results: Two families were linked to DFNB21 and two novel mutations have been detected so far. In two families a 266 Del T mutation and a large 9611bp deletion that starts from intron 9 and includes exon 10 in TECTA gene were detected.Conclusion: This study showed that mutations in DFNB21 LOCUS are the most common cause of ARNSHL in Iranian population. It seems that DFNB21 may play an important role in genetic load of ARNSHL in Iran. This will be confirmed by screening more families for this locus in Iranian deaf population.

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APA: Copy

IMANIRAD, P., KAHRIZI, K., BAZAZZADEGAN, N., MOHSENI, M., ASADI, G., NIKZAT, N., ESTEGHAMAT, F., & NAJMABAD, H.. (2006). LINKAGE ANALYSIS FOR 50 IRANIAN FAMILIES WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS FOR DFNB21 LOCUS. ARCHIVES OF REHABILITATION (JOURNAL OF REHABILITATION), 7(1 (24)), 49-52. SID. https://sid.ir/paper/43510/en

Vancouver: Copy

IMANIRAD P., KAHRIZI K., BAZAZZADEGAN N., MOHSENI M., ASADI G., NIKZAT N., ESTEGHAMAT F., NAJMABAD H.. LINKAGE ANALYSIS FOR 50 IRANIAN FAMILIES WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS FOR DFNB21 LOCUS. ARCHIVES OF REHABILITATION (JOURNAL OF REHABILITATION)[Internet]. 2006;7(1 (24)):49-52. Available from: https://sid.ir/paper/43510/en

IEEE: Copy

P. IMANIRAD, K. KAHRIZI, N. BAZAZZADEGAN, M. MOHSENI, G. ASADI, N. NIKZAT, F. ESTEGHAMAT, and H. NAJMABAD, “LINKAGE ANALYSIS FOR 50 IRANIAN FAMILIES WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS FOR DFNB21 LOCUS,” ARCHIVES OF REHABILITATION (JOURNAL OF REHABILITATION), vol. 7, no. 1 (24), pp. 49–52, 2006, [Online]. Available: https://sid.ir/paper/43510/en

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