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.
authors.affiliation: 1 Departments of Otolaryngology-Head and Neck Surgery, Leonard M. Miller School of Medicine, University of Miami , Miami, Florida.
authors.forename: Denise
authors.initials: D
authors.lastname: Yan
authors.affiliation: 1 Departments of Otolaryngology-Head and Neck Surgery, Leonard M. Miller School of Medicine, University of Miami , Miami, Florida.|2 SRM University , SRM Nagar, Chennai, India .
authors.forename: Abhiraami
authors.initials: A
authors.lastname: Kannan-Sundhari
authors.affiliation: 1 Departments of Otolaryngology-Head and Neck Surgery, Leonard M. Miller School of Medicine, University of Miami , Miami, Florida.|2 SRM University , SRM Nagar, Chennai, India .
authors.forename: Subramanian
authors.initials: S
authors.lastname: Vishwanath
authors.affiliation: 1 Departments of Otolaryngology-Head and Neck Surgery, Leonard M. Miller School of Medicine, University of Miami , Miami, Florida.
authors.forename: Jie
authors.initials: J
authors.lastname: Qing
authors.affiliation: 1 Departments of Otolaryngology-Head and Neck Surgery, Leonard M. Miller School of Medicine, University of Miami , Miami, Florida.
authors.forename: Rahul
authors.initials: R
authors.lastname: Mittal
authors.affiliation: 3 Madras ENT Research Foundation (MERF) Chennai, India .
authors.forename: Mohan
authors.initials: M
authors.lastname: Kameswaran
authors.affiliation: 1 Departments of Otolaryngology-Head and Neck Surgery, Leonard M. Miller School of Medicine, University of Miami , Miami, Florida.
authors.forename: Xue Zhong
authors.initials: XZ
authors.lastname: Liu
mesh_terms: D003241:Consanguinity; D003638:Deafness / Q000235:genetics; D005006:Ethnicity / Q000235:genetics; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D015994:Incidence; D007194:India; D008297:Male; D009154:Mutation; D010154:Pakistan; D015995:Prevalence