The Turkish Journal of Pediatrics
2003 , Vol 45 , Num 1
Mutation analysis of TSC2 gene in 33 Turkish familial cases with
tuberous sclerosis
Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara-Turkey
Department of Pediatric Neurology, Social Security Children\'s Hospital, Ankara- Turkey
Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara-Turkey
Abstract
Tuberous sclerosis is an autosomal dominant multisystem disorder characterized
by
hamartomatous growths in different organs. Disease determining genes are
localized to 9q34
(TSC1) and 16p13.3 (TSC2). Two-thirds of the cases are
sporadic and result from new
mutations. The aim of this study was to determine
TSC2 gene mutations by Single Stranded
Conformation Polymorphism (SSCP)
analysis and direct sequencing in 33 familial cases with
tuberous sclerosis who
were followed up in the Pediatric Neurology Departments of
Hacettepe
University İhsan Doğramacı and Ankara Social Security Childrens
Hospitals.
Forty-one exons of TSC2 gene were amplified and subjected to SSCP,
and
sequence analysis was performed when an abnormal SSCP pattern was observed.
As
a result, six new mutations and nine gene polymorphisms were detected.
The new mutations
are G→T mutation in exon 20, 16bp deletion in exon 29,
18bp deletion in exon 40, 538
G→A mutation in exon 29, T→C mutation in
exon 21 and G→A splice site
mutation in exon 5.
Although further studies on larger groups are needed, these results
do not
indicate a common region or type of mutation in the Turkish population.
Keywords :
tuberous sclerosis
TSC2
mutation
single stranded conformation polymorphism
Copyright © 2016 turkishjournalpediatrics.org