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 Medjournal_title
Laboratory medicineauthors
Arunachalam RK,Koshy T,Venkatesan V,Dawson GP,Franklin Durairaj Paul S,George Pdoi
10.1093/labmed/lmz027subject
Has Abstractpub_date
2020-01-02 00:00:00pages
56-65issue
1eissn
0007-5027issn
1943-7730pii
5509817journal_volume
51pub_type
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