Identification of atm mutations in korean siblings with ataxia-telangiectasia

Hee Jae Huh, Kyoo Ho Cho, Ji Eun Lee, Min Jung Kwon, Chang Seok Ki, Phil Hyu Lee

Research output: Contribution to journalArticle

3 Citations (Scopus)

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 ataxiatelangiectasia 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). Reversetranscription 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.

Original languageEnglish
Pages (from-to)217-220
Number of pages4
JournalAnnals of laboratory medicine
Volume33
Issue number3
DOIs
Publication statusPublished - 2013

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry
  • Biochemistry, medical

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