Prevalence of GJB2 mutations among patients with autosomal recessive non syndromic hearing loss in Sistan and Baloochestan province

Anoosh Naghavi; K Nishimura; K Kahrizi; Y Riazalhosseini; H Suraki Aliabadib; N Mahdieh; J Smith Richard; h najm ABADI

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Prevalence of GJB2 mutations among patients with autosomal recessive non syndromic hearing loss in Sistan and Baloochestan province

Author(s):

Anoosh Naghavi¹,

K Nishimura²,

K Kahrizi³,

Y Riazalhosseini⁴,

H Suraki Aliabadib⁵,

N Mahdieh³,

J Smith Richard²,

h najm ABADI^4,*

1Microbiology Dept, Faculty of Medicine, Zahedan University of Medical Sciences and health services, Zahedan, Iran.

2Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA, USA.

3Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran

4Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

5General Physician.

Zahedan Journal of Research in Medical Sciences:Vol. 7, issue 2; e94965

Published online:Jun 29, 2019

Article type:Research Article

Received:Jan 27, 2004

Accepted:Jun 28, 2005

How to Cite:Naghavi A, Nishimura K, Kahrizi K, Riazalhosseini Y, Suraki Aliabadib H, et al. Prevalence of GJB2 mutations among patients with autosomal recessive non syndromic hearing loss in Sistan and Baloochestan province. Zahedan J Res Med Sci. 2005;7(2):e94965. doi:

Abstract

Background: Hereditary hearing impairment is a heterogeneous disability showing different
pattern of inheritance and involving a multitude of different genes. Mutations in the GJB2 gene,
especially the 35delG mutation, have been established as a major cause of inherited and sporadic
non-syndromic deafness in various ethnic groups. Because population-specific differences are not
uncommon, in this study we sought to determine the prevalence and spectrum of GJB2 mutations in
two isolated ethnic groups of Balooch and Sistani in southeastern Iran.
Methods and Materials: In this study in 2004 2005 we analyzed one hundred families belonging to
the Balooch and Sistani populations suffering from autosomal recessive non-syndromic hearing
impairment. Mutation screening of GJB2 was performed by an allele-specific PCR assay to detect
the 35delG mutation. The negative or heterozygous cases for the 35delG mutation were screened by
denaturing high performance liquid chromatography (DHPLC) and sequencing analysis.
Results: 35delG mutation which is the most common GJB2 mutation in the white population as
well as other parts of Iran was not found in any of the patients. We identified GJB2 mutant alleles
in 18 chromosomes (9%) including R127H, K122I, W24X, 167delT and M93I. Among them W24X
had the highest frequency.
Conclusions: Based on these data, the hot-spot mutations in the GJB2 gene in the Balooch
population with non-syndromic hearing loss may be different from other ethnic groups in Iran.

Keywords

Deafness

GJB2

DHPLC

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References

1.
The References of this article are available on the PDF file.

Frequency of Connexin26 Gene Mutations in Autosomal Recessive Non-syndromic Deafness in Kermanshah(2002-4)

N Mahdieh,

C Nishimura,

K Ali-Madadi,

Y Yazdan,

S Kazemi,

Y Riazalhosseini

,et al.

Mahdieh N, Nishimura C, Ali-Madadi K, Yazdan Y, Kazemi S, et al. Frequency of Connexin26 Gene Mutations in Autosomal Recessive Non-syndromic Deafness in Kermanshah(2002-4). J Kermanshah Univ Med Sci. 2005;9(2):e81569. doi:

13

May

2011

Screening of three common mtDNA mutations among subjects with autosomal recessive non-syndromic hearing loss in Sistan va Baluchestan province, Iran

Fartemeh Azadegan-Dehkordi,

Mostafa Montazer-Zohouri,

Effat Farrokhi,

S.Abolfateh Shirmardi,

Mojtaba Saedi-Marghmaleki,

Zohreh Ataei

,et al.

Azadegan-Dehkordi F, Montazer-Zohouri M, Farrokhi E, Shirmardi S, Saedi-Marghmaleki M, et al. Screening of three common mtDNA mutations among subjects with autosomal recessive non-syndromic hearing loss in Sistan va Baluchestan province, Iran. Zahedan J Res Med Sci. 2011;13(5):e93909. doi:

20

Apr

2016

A case report of non-syndromic sensorineural hearing loss with a compound heterozygous mutation (35delG/del120E) in the GJB2 gene

Habib Onsori

Onsori H. A case report of non-syndromic sensorineural hearing loss with a compound heterozygous mutation (35delG/del120E) in the GJB2 gene. J Inflamm Dis. 2024;20(1):e155955. doi:

26

Aug

2010

The contribution of autosomaul recessive non-syndromic deafness to DFNB59 mutations (Pejvakin)

Marzieh Abolhasani,

Effat Farrokhi,

Mohsen Noorbakhsh,

Maryam Taherzadeh,

Fatemeh Azadegan,

Azam Asgari

,et al.

Abolhasani M, Farrokhi E, Noorbakhsh M, Taherzadeh M, Azadegan F, et al. The contribution of autosomaul recessive non-syndromic deafness to DFNB59 mutations (Pejvakin). Zahedan J Res Med Sci. 2010;12(3):e94295. doi:

1

Sep

2019

Audiologic and demographic characteristics of deaf people in an Iranian population

Shadman Nemati,

Alia Saberi,

Ehsan Kazemnezhad Leili,

Nasim Koochaki goldiani

Nemati S, Saberi A, Kazemnezhad Leili E, Koochaki goldiani N. Audiologic and demographic characteristics of deaf people in an Iranian population. koomesh. 2019;21(3):e153111. doi:

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Author(s):

Anoosh Naghavi:[PubMed][Scholar]
K Nishimura:[PubMed][Scholar]
K Kahrizi:[PubMed][Scholar]
Y Riazalhosseini:[PubMed][Scholar]
H Suraki Aliabadib:[PubMed][Scholar]
N Mahdieh:[PubMed][Scholar]
J Smith Richard:[PubMed][Scholar]
h najm ABADI:[PubMed][Scholar]

The Official Journal of Zahedan University of Medical Sciences

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Prevalence of GJB2 mutations among patients with autosomal recessive non syndromic hearing loss in Sistan and Baloochestan province

Abstract

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References

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