Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy

Korean Journal of Laboratory Medicine

Volumn 30, Issue 5, 2010, Pages 516-520

  Kang, Dong Hee ^a   Lee, Dong Hwan ^a   Hong, Yong Hee ^a   Lee, Seung Tae ^b   Jeon, Byung Ryul ^a   Lee, You Kyoung ^a   Ki, Chang Seok ^b   Lee, Yong Wha ^a  

^a Soonchunhyang University College of Medicine   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

ARSA; Korean; Metachromatic leukodystrophy; Novel mutation

Indexed keywords

CEREBROSIDE SULFATASE; MESSENGER RNA;

ARTICLE; CASE REPORT; EXON; GENETICS; HETEROZYGOTE; HUMAN; INFANT; INTRON; MALE; METACHROMATIC LEUKODYSTROPHY; MISSENSE MUTATION; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; RNA SPLICING;

CEREBROSIDE-SULFATASE; EXONS; HETEROZYGOTE; HUMANS; INFANT; INTRONS; LEUKODYSTROPHY, METACHROMATIC; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; MUTATION, MISSENSE; RNA SPLICING; RNA, MESSENGER;

EID: 78049276832     PISSN: 15986535     EISSN: None     Source Type: Journal    
DOI: 10.3343/kjlm.2010.30.5.516     Document Type: Article

References (16)

1. Ługowska A, Szymańska K, Kmiec T, Tarczyńska I, Czartoryska B, Tylki-Szymańska A, et al. Homozygote for mutation C.1204+1G>A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type. J Appl Genet 2005;46:337-9.
2. Coulter-Mackie MB, Gagnier L, Beis MJ, Applegarth DA, Cole DE, Gordon K, et al. Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene. J Med Genet 1997;34:493-8.
3. Zlotogora J, Furman-Shaharabani Y, Harris A, Barth ML, von Figura K, Gieselmann V. A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy. J Med Genet 1994;31:672-4.
4. Gieselmann V. Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options. Acta Paediatr Suppl 2008;97:15-21.
5. Barth ML, Fensom A, Harris A. The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy. J Med Genet 1994;31:663-6.
6. Roh MR, Lee KW, Lee DW, Lee SJ, Lee DW, Kang DY, et al. Two cases of late infantile metachromatic leukodystrophy. J Korean Pediatr Soc 1984;27:1033-9.
7. Lee HJ, Shin YJ, Hwang YS, Moon HR, Seo JS. Late infantile metachromatic leukodystrophy-arylsulfatase A assay in 24h urine. J Korean Pediatr Soc 1989;32:978-83.
8. Kim YJ, Chae KY, Choi JE, Kim KJ, Hwang YS, Kim IO. Clinical and neurologic features of metachromatic leukodystrophy. J Korean Child Neurol Soc 1995;3:31-42.
9. Kreysing J, von Figura K, Gieselmann V. Structure of the arylsulfatase A gene. Eur J Biochem 1990;191:627-31.
10. Rogan PK, Faux BM, Schneider TD. Information analysis of human splice site mutations. Hum Mutat 1998;12:153-71.
11. Kondo R, Wakamatsu N, Yoshino H, Fukuhara N, Miyatake T, Tsuji S. Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy. Am J Hum Genet 1991;48:971-8.
12. Polten A, Fluharty AL, Huharty CB, Kappler J, von Figura K, Gieselmann V. Molecular basis of different forms of metachromatic leukodystrophy. N Engl J Med 1991;324:18-22.
13. Conzelmann E and Sandhoff K. Partial enzyme deficiendes: residual activities and the development of neurological disorders. Dev Neurosci 1983;6:58-71.
14. Fluharty AL. Arylsulfatase A defidency. In: Pagon RA, Bird TC, et al. eds. GeneReviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book= gene&part=mld[ME4] (Updated on Sep 2008).
15. Peters C and Steward CG. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant 2003;31:229-39.
16. Peters C Hematopoietic cell transplantation for storage diseases. In: Blunme K, Forman S, et al. eds. Thomas hematopoietic cell transplantation. London: Blackwell Scientific, 2003.