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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2010.1
- 수록면
- 516 - 520 (5page)
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초록· 키워드
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Metachromatic leukodystrophy (MLD; MIM 250100), a severe neurodegenerative disorder inherited as an autosomal recessive trait, is caused by mutations in the arylsulfatase A (ARSA) gene.
Although several germ line ARSA mutations have been identified in patients with MLD of various ethnic backgrounds elsewhere in the world, no genetically confirmed cases of MLD have been reported in Korea. Recently, we identified a mutation in the ARSA gene of a Korean male with MLD.
A male infant with late-infantile form of MLD had been admitted to our hospital for further examination. His neuromuscular symptoms, which included inability to walk at the age of 12 months, gradually worsened, even after allograft bone marrow transplantation; he died at the age of 9 yr. His elder brother had also been diagnosed with MLD. To confirm the presence of a genetic abnormality, all the coding exons of the ARSA gene and the flanking introns were amplified by PCR. A molecular analysis of the ARSA gene revealed both a novel heterozygous splicing mutation (c.1101+1G>T) in intron 6 and a heterozygous missense mutation in exon 2 (c.296G>A; Gly99Asp). The patient’s elder brother who had MLD is believed to have had the same mutation, which may be correlated with a rapidly deteriorating clinical course. This study identified a novel mutation in the ARSA gene, related to a late-infantile form of MLD with a lethal clinical course and suggested that molecular diagnosis of patients may be useful in early diagnosis and for deciding intervention measures for their family members. (Korean J Lab Med 2010;30:516-20)
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참고문헌 (16)
참고문헌 신청
Barth ML / 1994 / The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy / J Med Genet 31 : 663 ~ 666
Conzelmann E / 1983 / Partial enzyme deficiencies: residual activities and the development of neurological disorders / Dev Neurosci 6 : 58 ~ 71
Coulter-Mackie MB / 1997 / Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene / J Med Genet 34 : 493 ~
Fluharty AL / / Arylsulfatase A deficiency in GeneReviews
Gieselmann V / 2008 / Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options / Acta Paediatr Suppl 97 : 15 ~ 21
Conzelmann E / 1983 / Partial enzyme deficiencies: residual activities and the development of neurological disorders / Dev Neurosci 6 : 58 ~ 71
Coulter-Mackie MB / 1997 / Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene / J Med Genet 34 : 493 ~
Fluharty AL / / Arylsulfatase A deficiency in GeneReviews
Gieselmann V / 2008 / Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options / Acta Paediatr Suppl 97 : 15 ~ 21
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