The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations

Denise Yan, Abhiraami Kannan-Sundhari, Subramanian Vishwanath, Jie Qing, Rahul Mittal, Mohan Kameswaran, Xue Z Liu

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Deafness encompasses a series of etiologically heterogeneous disorders with mutations in more than 400 independent genes. However, several studies indicate that a large proportion of both syndromic and nonsyndromic forms of deafness in the racially diverse Indian and Pakistani populations are caused by defects in just a few genes. In these countries, there is a strong cultural preference for consanguineous marriage and an associated relatively high prevalence of genetic disorders. The current Indian population is approximately 1.2 billion and it is estimated that 30,000 infants are born with congenital sensorineural hearing loss (HL) each year. The estimated rate of profound bilateral HL is 1.6 per 1000 in Pakistan and 70% of this HL arises in consanguineous families. Knowledge of the genetic cause of deafness within a distinct population is important for accurate genetic counseling and early diagnosis for timely intervention and treatment options. Many sources and technologies are now available for the testing of hearing efficiency. Population-based screening has been proposed as one of the major strategies for translating genetic and genomic advances into population health gains. This review of the genetics of deafness in Indian and Pakistani populations deals with the major causes of deafness in these countries and prospectives for reducing the incidence of inherited deafness.

Original languageEnglish (US)
Pages (from-to)512-527
Number of pages16
JournalGenetic Testing and Molecular Biomarkers
Volume19
Issue number9
DOIs
StatePublished - Sep 1 2015

Fingerprint

Deafness
Population
Bilateral Hearing Loss
Inborn Genetic Diseases
Sensorineural Hearing Loss
Pakistan
Genetic Counseling
Marriage
Hearing Loss
Hearing
Genes
Nonsyndromic Deafness
Early Diagnosis
Technology
Mutation
Incidence
Health

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations. / Yan, Denise; Kannan-Sundhari, Abhiraami; Vishwanath, Subramanian; Qing, Jie; Mittal, Rahul; Kameswaran, Mohan; Liu, Xue Z.

In: Genetic Testing and Molecular Biomarkers, Vol. 19, No. 9, 01.09.2015, p. 512-527.

Research output: Contribution to journalArticle

Yan, Denise ; Kannan-Sundhari, Abhiraami ; Vishwanath, Subramanian ; Qing, Jie ; Mittal, Rahul ; Kameswaran, Mohan ; Liu, Xue Z. / The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations. In: Genetic Testing and Molecular Biomarkers. 2015 ; Vol. 19, No. 9. pp. 512-527.
@article{a069b21bd191404d97966d5ec7559a75,
title = "The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations",
abstract = "Deafness encompasses a series of etiologically heterogeneous disorders with mutations in more than 400 independent genes. However, several studies indicate that a large proportion of both syndromic and nonsyndromic forms of deafness in the racially diverse Indian and Pakistani populations are caused by defects in just a few genes. In these countries, there is a strong cultural preference for consanguineous marriage and an associated relatively high prevalence of genetic disorders. The current Indian population is approximately 1.2 billion and it is estimated that 30,000 infants are born with congenital sensorineural hearing loss (HL) each year. The estimated rate of profound bilateral HL is 1.6 per 1000 in Pakistan and 70{\%} of this HL arises in consanguineous families. Knowledge of the genetic cause of deafness within a distinct population is important for accurate genetic counseling and early diagnosis for timely intervention and treatment options. Many sources and technologies are now available for the testing of hearing efficiency. Population-based screening has been proposed as one of the major strategies for translating genetic and genomic advances into population health gains. This review of the genetics of deafness in Indian and Pakistani populations deals with the major causes of deafness in these countries and prospectives for reducing the incidence of inherited deafness.",
author = "Denise Yan and Abhiraami Kannan-Sundhari and Subramanian Vishwanath and Jie Qing and Rahul Mittal and Mohan Kameswaran and Liu, {Xue Z}",
year = "2015",
month = "9",
day = "1",
doi = "10.1089/gtmb.2015.0023",
language = "English (US)",
volume = "19",
pages = "512--527",
journal = "Genetic Testing and Molecular Biomarkers",
issn = "1945-0265",
publisher = "Mary Ann Liebert Inc.",
number = "9",

}

TY - JOUR

T1 - The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations

AU - Yan, Denise

AU - Kannan-Sundhari, Abhiraami

AU - Vishwanath, Subramanian

AU - Qing, Jie

AU - Mittal, Rahul

AU - Kameswaran, Mohan

AU - Liu, Xue Z

PY - 2015/9/1

Y1 - 2015/9/1

N2 - Deafness encompasses a series of etiologically heterogeneous disorders with mutations in more than 400 independent genes. However, several studies indicate that a large proportion of both syndromic and nonsyndromic forms of deafness in the racially diverse Indian and Pakistani populations are caused by defects in just a few genes. In these countries, there is a strong cultural preference for consanguineous marriage and an associated relatively high prevalence of genetic disorders. The current Indian population is approximately 1.2 billion and it is estimated that 30,000 infants are born with congenital sensorineural hearing loss (HL) each year. The estimated rate of profound bilateral HL is 1.6 per 1000 in Pakistan and 70% of this HL arises in consanguineous families. Knowledge of the genetic cause of deafness within a distinct population is important for accurate genetic counseling and early diagnosis for timely intervention and treatment options. Many sources and technologies are now available for the testing of hearing efficiency. Population-based screening has been proposed as one of the major strategies for translating genetic and genomic advances into population health gains. This review of the genetics of deafness in Indian and Pakistani populations deals with the major causes of deafness in these countries and prospectives for reducing the incidence of inherited deafness.

AB - Deafness encompasses a series of etiologically heterogeneous disorders with mutations in more than 400 independent genes. However, several studies indicate that a large proportion of both syndromic and nonsyndromic forms of deafness in the racially diverse Indian and Pakistani populations are caused by defects in just a few genes. In these countries, there is a strong cultural preference for consanguineous marriage and an associated relatively high prevalence of genetic disorders. The current Indian population is approximately 1.2 billion and it is estimated that 30,000 infants are born with congenital sensorineural hearing loss (HL) each year. The estimated rate of profound bilateral HL is 1.6 per 1000 in Pakistan and 70% of this HL arises in consanguineous families. Knowledge of the genetic cause of deafness within a distinct population is important for accurate genetic counseling and early diagnosis for timely intervention and treatment options. Many sources and technologies are now available for the testing of hearing efficiency. Population-based screening has been proposed as one of the major strategies for translating genetic and genomic advances into population health gains. This review of the genetics of deafness in Indian and Pakistani populations deals with the major causes of deafness in these countries and prospectives for reducing the incidence of inherited deafness.

UR - http://www.scopus.com/inward/record.url?scp=84941651963&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84941651963&partnerID=8YFLogxK

U2 - 10.1089/gtmb.2015.0023

DO - 10.1089/gtmb.2015.0023

M3 - Article

C2 - 26186295

AN - SCOPUS:84941651963

VL - 19

SP - 512

EP - 527

JO - Genetic Testing and Molecular Biomarkers

JF - Genetic Testing and Molecular Biomarkers

SN - 1945-0265

IS - 9

ER -