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Identification of ATM Mutations in Korean Siblings with Ataxia-Telangiectasia

Authors
 Hee Jae Huh  ;  Kyoo-ho Cho  ;  Ji Eun Lee  ;  Min-Jung Kwon  ;  Chang-Seok Ki  ;  Phil Hyu Lee 
Citation
 ANNALS OF LABORATORY MEDICINE, Vol.33(3) : 217-220, 2013 
Journal Title
 ANNALS OF LABORATORY MEDICINE 
ISSN
 2234-3806 
Issue Date
2013
MeSH
Asian Continental Ancestry Group/genetics* ; Ataxia Telangiectasia/diagnosis ; Ataxia Telangiectasia/genetics* ; Ataxia Telangiectasia Mutated Proteins/genetics* ; Child ; Female ; Heterozygote ; Humans ; Introns ; Male ; Mutation, Missense ; Pedigree ; Republic of Korea ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Analysis, DNA ; Siblings
Keywords
Ataxia ; Ataxia telangiectasia ; Ataxia telangiectasia mutated protein ; Korea
Abstract
Ataxia-telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder. It is characterized by early-onset, progressive cerebellar ataxia, oculomotor apraxia, choreoathetosis, conjunctival telangiectasias, immunodeficiency, and an increased risk of malignancy. Although A-T is known to be the most common cause of progressive cerebellar ataxia in childhood, there have been no confirmed cases in Korea. We report the clinical and genetic findings of Korean siblings who presented with limb and truncal ataxia, oculomotor apraxia, choreoathetosis, and telangiectasias of the eyes. Sequence analysis of the ataxia-telangiectasia mutated (ATM) gene revealed a known missense mutation (c.8546G>C; p.Arg2849Pro) and a novel intronic variant of intron 17 (c.2639-19_2639-7del13). Reverse-transcription PCR and sequencing analysis revealed that the c.2639-19_2639-7del13 variant causes a splicing aberration that potentiates skipping exon 18. Because A-T is quite rare in Korea, the diagnosis of A-T in Korean patients can be delayed. We recommend that a diagnosis of A-T should be suspected in Korean patients exhibiting the clinical features of A-T.
Files in This Item:
T201303421.pdf Download
DOI
10.3343/alm.2013.33.3.217
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Ji Eun(이지은)
Lee, Phil Hyu(이필휴) ORCID logo https://orcid.org/0000-0001-9931-8462
Cho, Kyoo Ho(조규호) ORCID logo https://orcid.org/0000-0003-2402-7198
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/88057
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