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Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans
한국인 근긴장성 이영양증 제1형 환자의 분자유전학적 및 임상적 특성

Cited 10 time in Web of Science Cited 10 time in Scopus
Authors
Kim, So Yeon; Kim, Ji Yeon; Kim, Gyoung Pyoung; Sung, Jung-Jun; Lim, Kyu Sang; Lee, Kwang-Woo; Chae, Jong Hee; Hong, Yoon-Ho; Seong, Moon-Woo; Park, Sung Sup
Issue Date
2009-01-08
Publisher
대한진단검사의학회
Citation
Korean J Lab Med. 2008;28(6):483-492
Keywords
Blotting, SouthernData Interpretation, StatisticalFemaleGenotypeHumansKoreaMaleMyotonic Dystrophy/*diagnosis/*geneticsPedigreePhenotypePolymerase Chain ReactionProtein-Serine-Threonine Kinases/geneticsRetrospective StudiesTrinucleotide Repeat Expansion/genetics
Abstract
BACKGROUND: Myotonic dystrophy type 1 (DM1) is an autosomal-dominant muscular dystrophy caused by expansion of cytosine-thymine-guanine (CTG) trinucleotide repeats in the myotonic dystrophy protein kinase (DMPK) gene. The clinical features of DM1 are multisystemic and highly variable, and the unstable nature of CTG expansion causes wide genotypic and phenotypic presentations. The aim of this study was to characterize the molecular and clinical spectra of DM1 in Koreans. METHODS: The CTG repeats of 283 Korean individuals were tested by PCR fragment analysis and Southern blot. The following characteristics were assessed retrospectively: spectrum of CTG expansions, clinical findings, genotype-phenotype correlation, anticipation, and genetic instability. RESULTS: One-hundred twenty-four patients were confirmed as DM1 by molecular tests, and the CTG expansions ranged from 50 to 2,770 repeats (median 480 repeats). The most frequent clinical features were myotonia, muscular weakness, and family history. Patients with muscular weakness or dysfunction of the central nervous system harbored larger CTG expansions than those without each symptom (P<0.05). The age of onset was inversely correlated with the size of the CTG expansion (gamma=-0.422, P<0.001). The instability of CTG expansion representing as the maximum difference between sibships was observed from 50 to 700 repeats in nine families. Clinical anticipation and the increase in CTG repeat were significantly higher in maternally transmitted alleles (P=0.002). CONCLUSIONS: Molecular genetic tests are not only essential for diagnosis, but also helpful for suggesting the spectrum and relationship between genotype and phenotype in Korean DM1 patients.
ISSN
1598-6535 (Print)
Language
English
URI
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=19127114

http://synapse.koreamed.org/Synapse/Data/PDFData/0039KJLM/kjlm-28-483.pdf

http://hdl.handle.net/10371/68413
DOI
https://doi.org/10.3343/kjlm.2008.28.6.483
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College of Medicine/School of Medicine (의과대학/대학원)Dept. of Neurology (신경과학교실)Journal Papers (저널논문_신경과학교실)
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