結節性硬化症:TSC2基因變異與相關表現型研究
Date Issued
1999
Date
1999
Author(s)
侯家瑋
DOI
882314B002170
Abstract
Tuberous sclerosis complex (TSC) is an
inherited tumor suppressor syndrome,
characterized by a broad phenotypic
spectrum that can include seizures, mental
retardation, renal dysfunction, and
dermatological abnormalities. It is an
autosomal dominant neurocutaneous disorder
associated with the growth of hamartomas
(tumor-like malformations) in many tissues
and organs, including brain, skin, heart, and
kidney. The TSC2 gene consists of 41
exons, spanning 43kb of genomic DNA. To
evaluate the differences in the clinical
phenotype of the patients and the underlying
mutations, we performed Southern blotting
analysis, SSCP analysis and DNA
sequencing to screen for large abnormalities,
smaller mutations in the TSC2 gene, along
with the clinical manifestations. After
intensive screening of the exons of TSC2
gene, the results revealed several different
mutations: nonsense (C1531T:1; C2269T:1;
C4393T:3), missense (G1850A:1; C4947G:1;
C5042T:1), in-frame deletion (5266 del
18bp:4), and multigene deletion
(TSC2/RTS:1) which is proved by
fluorescence in situ hybridization using the
probe RT203 and E4F1. The comparison of
clinical manifestation and mutational changes
showed the patients haboring the nonsense
mutation have poor prognsosis, when they
are more prone to the occurrence of epilepsy
or mental retardation. The result also showed TSC2 (15/18) has higher prevalence
than TSC1, possibly due to the milder
phenotype in TSC1 patients. Besides, a
contiguous gene syndrome does exist in the
chromosomal region 16p13.3, because of the
more frequent larger abnormalities associated
with complicated phenotype (eg, RTS-TSC2-
PKD).
Subjects
tuberous sclerosis
TSC2 gene
autosomal dominant polycystic
kidney disease
kidney disease
chromosome 16
Rubinstein-Taybi syndrome
Publisher
臺北市：國立臺灣大學醫學院小兒科
Type
report
File(s)![Thumbnail Image]()
Loading...
Name
882314B002170.pdf
Size
33.62 KB
Format
Adobe PDF
Checksum
(MD5):b59212523f76cb416bf58c53b9633372