Mutation Analysis Using Multiplex Ligation-Dependent Probe Amplification in Consanguineous Families in South India with a Child with Profound Hearing Impairment.

Abstract:

BACKGROUND:Consanguineous marriage, a common practice in South India, increase the incidence of autosomal recessive diseases such as nonsyndromic hearing loss (NSHL) in offspring. This trend was noted in the children with hearing impairment (HI) who received cochlear implants (CI) at our University hospital in Porur, Chennai, India. To ascertain the genetic etiology of HI in these patients, we performed multiplex ligation-dependent probe amplification (MLPA) analysis. METHODS:A total of 25 families who had a child with NSHL were included in the study. MLPA screening of GJB2, GJB6, and GJB3 was performed for all the recruited individuals. RESULTS:The pathogenic p.W24X* mutation of GJB2 was detected in 2 patients; both of their parents were heterozygous carriers. Both families had a second-degree consanguineous marriage. CONCLUSION:This study has important implications for molecular-diagnosis strategy and genetic counseling for families with HI in South India.

journal_name

Lab Med

journal_title

Laboratory medicine

authors

Arunachalam RK,Koshy T,Venkatesan V,Dawson GP,Franklin Durairaj Paul S,George P

doi

10.1093/labmed/lmz027

subject

Has Abstract

pub_date

2020-01-02 00:00:00

pages

56-65

issue

1

eissn

0007-5027

issn

1943-7730

pii

5509817

journal_volume

51

pub_type

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