Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

Human Mutation

Volumn 10, Issue 5, 1997, Pages 368-375

  Tomatsu, Shunji ^a,b   Fukuda, Seiji ^a   Cooper, Alan ^c   Wraith, James E ^c   Ferreira, Patrick ^d   Natale, Paola Di ^e   Tortora, Paolo ^f   Fujimoto, Atsuko ^g   Kato, Zenichiro ^a   Yamada, Naoto ^a   Isogai, Kouji ^a   Yamagishi, Atsushi ^a   Sukegawa, Kazuko ^a   Suzuki, Yasuyuki ^a   Shimozawa, Nobuyuki ^a   Kondo, Naomi ^a   Sly, William S ^b   Orii, Tadao ^h  

^a GIFU UNIVERSITY   (Japan)

^b SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

^d UNIVERSITY OF ALBERTA HOSPITAL   (Canada)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f UNIVERSITY OF MILAN   (Italy)

^g LAC USC MEDICAL CENTER   (United States)

^h Chubu Women's College   (Japan)

Author keywords

Expression study; GALNS; Genotype phenotype correlation; SSCP

Indexed keywords

N ACETYLGALACTOSAMINE 6 SULFATASE;

ARTICLE; CLINICAL ARTICLE; GENOTYPE; HUMAN; MISSENSE MUTATION; MORQUIO SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

CHONDROITINSULFATASES; DNA, COMPLEMENTARY; HUMANS; MUCOPOLYSACCHARIDOSIS IV; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 16944361912     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:5<368::AID-HUMU6>3.0.CO;2-B     Document Type: Article

References (5)

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2. Di Ferrante N, Ginsberg LC, Donnelly PV, Di Ferrante DT (1978) Deficiencies of glucosamine-6-sulfate or galactose-6-sulfate sulfatase are responsible for different mucopolysaccharidoses. Science 199:79-81.
3. Fujimoto A, Horwitz AL (1983) Biochemical defect of non keratan sulfate excreting Morquio syndrome. Am J Med Genet 15:265-273.
4. Fukuda S, Tomatsu S, Masue M, Sukegawa K, Iwata H, Ogawa T, Nakashima Y, Hori T, Yamagishi A, Hanyu Y, Morooka K, Kiman T, Hashimoto T, Orii T (1992) Mucopolysaccharidosis type IVA: N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases. J Clin Invest 90:1049-1053.
5. Fukuda S, Tomatsu S, Masue M, Ogawa T, Yamagishi A, Rezvi GMM, Sukegawa K, Shimozawa N, Suzuki Y, Kondo N, Imaizumi K, Kurosaki Y, Okabe T, Orii T (1996a) Mucopolysaccaridosis type IVA: submicroscopic deletion of 16q24.3 and novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease. Hum Mutat 7:123-134.