Unpublished Variant 20081105001

This is a record of an observed human mtDNA variant submitted to MITOMAP


Citing this variant:
Padma, Gunda; Ramchander, P. V. 2008. MITOMAP mtDNA Sequence Data, https://www.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20081105001


VariantSubmissionForm edit

LastName Padma
FirstName Gunda
MiddleName
Email padma.genetics@gmail.com
OrganizationName OSMANIA UNIVERSITY
OrganizationURL
Country India
Address DEPARTMENT OF GENETICS, OSMANIA UNIVERSITY, HYDERABAD-500007
PILastName Padma
PIFirstName Tirunilai
PIMiddleName
PIEmail padmatirunilai@gmail.com
OtherContributor Ramchander, P. V.
Detection automated
SampleID Hyd-1; Hyd-2
Tissue blood
Phenotype Non-Syndromic Hearing Impairment (NSHI)
Ethnicity Hindu
Origin India
Haplogroup -
Comment The mutation A-G at position 1453 was found in two unrelated individuals (Hyd-1 and Hyd-2) showed typical maternal inheritance segregating in three generations.The sample Hyd-1 also showed homozygosity for W24X mutation in Exon-2 of GJB2 gene. The proband had severe hearing impairment requiring 110 decibels. This probably indicates the interaction of nuclear-mitochondrial genes influencing clinical expression.%%The sample Hyd-2 did not show mutations %screened in GJB2 (35delG, W24X, 231G-A, 235delC, 167delT in Exon-2 of Connexin 26) and GJB6 (342Kb deletion in Exon-3 of Connexin 30).%%Entire GJB6 gene was screened for possible mutations by SSCP but no variation was found in the two DNA samples reported.
Topic revision: r1 - 17 Nov 2015, UnknownUser

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