Genetic linkage analysis of the DFNB63 locus in families with autosomal recessive nonsyndromic hearing loss from Hamadan and Kohgiluyeh and Boyer-Ahmad Provinces, Iran

Alipour, Paria. and Tabatabaiefar, Mohammad Amin. and Reiisi, Somayeh. and Fattahi, Najmeh. and Pourahmadian, Azam. and Hashemzadeh-Chaleshtori, Morteza. (2015) Genetic linkage analysis of the DFNB63 locus in families with autosomal recessive nonsyndromic hearing loss from Hamadan and Kohgiluyeh and Boyer-Ahmad Provinces, Iran. Journal of Isfahan Medical School, 33 (346). pp. 1308-1317.

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Abstract

Background: Hearing loss is a sensorineural impairment and is one of the most widespread congenital impairments with a prevalence of one in thousand among children. Studies have shown that 50 percent of congenital hearing loss have genetic causes and the remaining 50 percent are due to environment and unknown reasons; in addition, it is noted that this impairment is very heterogeneous. Almost 70 percent of cases are nonsyndromic with hearing loss presenting as the only impairment. About 80 percent of this type of hearing loss is inherited in recessive manner (ARNSHL). In this study, we determined the role of DFNB63 locus in a series of families in two western provinces of Iran. Methods: In this descriptive-laboratory study, to determine the prevalence of DFNB63 mutations in western provinces of Iran, we studied 150 individuals from 30 families in Hamadan and Kohgiluyeh and Boyer-Ahmad provinces. The selected families in this study were consanguineous, had at least 2 patients, and were negative for GJB2 mutations. Linkage analysis was performed using six appropriate short tandem repeats (STR) markers. Findings: With linkage analysis of selected families, no family was shown to be linked to the DFNB63 locus. It was shown that the LRTOMT mutations played no role in causing hearing loss in the studied families. Conclusion: The present study suggests that LRTOMT mutations may not be clinically important in causing autosomal recessive nonsyndromic hearing loss in the investigated provinces. © 2015, Isfahan University of Medical Sciences(IUMS). All rights reserved.

Item Type: Article
Additional Information: cited By 0
Uncontrolled Keywords: Article; autosomal recessive inheritance; congenital deafness; consanguineous marriage; DFNB63 gene locus; gene; gene locus; gene mutation; GJB2 gene; hearing impairment; human; Iran; linkage analysis; LRTOMT gene; perception deafness; short tandem repeat
Subjects: QU Biochemistry > Cell biology and genetics
WV Otolaryngology
Divisions: Reserach Vice-Chancellar Department > Cellular and Molecular Research Center
Depositing User: zahra bagheri .
Date Deposited: 29 Jul 2017 07:59
Last Modified: 15 Apr 2018 09:31
URI: http://eprints.skums.ac.ir/id/eprint/1969

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