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Identification of ATM Mutations in Korean Siblings with Ataxia-Telangiectasia

Authors
 Hee Jae Huh ; Kyoo-ho Cho ; Phil Hyu Lee ; Chang-Seok Ki ; Min-Jung Kwon ; Ji Eun Lee 
Citation
 Annals of Laboratory Medicine, Vol.33(3) : 217~220, 2013 
Journal Title
 Annals of Laboratory Medicine 
ISSN
 2234-3806 
Issue Date
2013
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.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/88057
DOI
10.3343/alm.2013.33.3.217
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Neurology
Yonsei Authors
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