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European Journal of Pediatrics
Published in: European Journal of Pediatrics 4-5/2004

01-04-2004 | Original Paper

Sisters with α-mannosidosis and systemic lupus erythematosus

Authors: Maki Urushihara, Shoji Kagami, Koji Yasutomo, Michinori Ito, Shuji Kondo, Akiko Kitamura, Dag Malm, Helle Klenow, Oivind Nilssen, Yasuhiro Kuroda

Published in: European Journal of Pediatrics | Issue 4-5/2004

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Abstract

Alpha-mannosidosis is an autosomal recessive disorder caused by deficiency of lysosomal α-mannosidase (LAMAN). Here, we report two sisters with α-mannosidosis who developed systemic lupus erythematosus (SLE). The sisters were both homozygous for a one bp deletion within the LAMAN gene resulting in a truncated gene product. The coincidence of α-mannosidosis and SLE are discussed with regard to both clinical and molecular findings. Conclusion:α-mannnosidosis may contribute to the onset of systemic lupus erythematosus in predisposed patients.
Literature
1.
Berg T, Tollersrud OK, Walkley SU, Siegel D, Nilssen O (1997) Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats. Biochem J 328: 863–870PubMed
2.
Berg T, Riise HM, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK, Nilssen O (1999) Spectrum of mutations in alpha-mannosidosis. Am J Hum Genet 64: 77–88CrossRefPubMed
3.
Chester MA, Lundblad A, Öckerman PA, Autio S (1982) Mannosidosis. In: Durand P, O’Brien J (eds) Genetic errors of glycoprotein metabolism. Edi-Ermes, Milano, Springer, Berlin Heidelberg New York, pp 89–121
4.
Daniel PF, Winchester B, Warren CD (1994) Mammalian alpha-mannosidases– multiple forms but a common purpose? Glycobiology 4: 551–566PubMed
5.
Delves PJ (1998) The role of glycosylation in autoimmune disease. Autoimmunity 27: 239–253PubMed
6.
Gonzalez-Crespo MR, Lopez-Fernandez JI, Usera G, Poveda MJ, Gomez-Reino JJ (1996) Outcome of silent lupus nephritis. Semin Arthritis Rheum 26: 468–476PubMed
7.
8.
Hochberg MC (1997) Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus (letter). Arthritis Rheum 40: 1725
9.
Morita C, Horiuchi T, Tsukamoto H, Hatta N, Kikuchi Y, Arinobu Y, Otsuka T, Sawabe T, Harashima S, Nagasawa K, Niho Y (2001) Association of tumor necrosis factor receptor type II polymorphism 196R with systemic lupus erythematosus in the Japanese: molecular and functional analysis. Arthritis Rheum 44: 2819–2827CrossRefPubMed
10.
Nilssen O, Berg I, Riise HM, Ramachandran U, Evjen G, Hansen GM, Malm D, Tranebjaeg L Tollersrud OK (1997) Alpha-mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings. Hum Mol Genet 6: 717–726CrossRefPubMed
11.
Öckerman PA (1969) Fluorimetric estimation of 4-methylumbelliferyl-alpha-mannosidase activity in blood plasma. Clin Chim Acta 3: 479–482CrossRef
12.
Takeda E, Kuroda, Y, Tomita T, Kobayashi H, Ito M, Watanabe T, Toshima K, Hashimoto T, Miyao M (1984) Two siblings with beta-galactosidase-neuraminidase deficiency (galactosialidosis) developing clinical symptoms in early childhood. No To Hattatsu 16: 393–398PubMed
13.
Thomas GH (2001) Disorders of glycoprotein degradation: alpha-mannosidosis, beta-mannosidosis, fucosidosis, and sialidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 8th edn. McGraw-Hill, New York, pp 3507–3515
14.
Yasutomo K, Horiuchi T, Kagami S, Tsukamoto H, Hashimura C, Urushihara M, Kuroda Y (2001) Mutation of DNASE1 in people with systemic lupus erythematosus. Nat Genet 28: 313–314CrossRefPubMed
Metadata
Title
Sisters with α-mannosidosis and systemic lupus erythematosus
Authors
Maki Urushihara
Shoji Kagami
Koji Yasutomo
Michinori Ito
Shuji Kondo
Akiko Kitamura
Dag Malm
Helle Klenow
Oivind Nilssen
Yasuhiro Kuroda
Publication date
01-04-2004
Publisher
Springer-Verlag
Published in
European Journal of Pediatrics / Issue 4-5/2004
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-004-1404-2

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