Identification of 31 novel mutations in the N-acetylgalactosamine-6- sulfatase gene reveals excessive allelic heterogeneity among patients with morquio A syndrome

Human Mutation

Volumn 10, Issue 3, 1997, Pages 223-232

  Bunge, Susanna ^a   Kleijer, Wim J ^b   Tylki Szymanska, Anna ^c   Steglich, Cordula ^a   Beck, Michael ^d   Tomatsu, Shunji ^e   Fukuda, Seiji ^e   Poorthuis, Ben J H M ^f   Czartoryska, Barbara ^g   Orii, Tadao ^e   Gal, Andreas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^d UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^e GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^g INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

Author keywords

Genotype phenotype correlation; Morquio syndrome; Mucopolysaccharidosis type VIA; Mutation spectrum; N acetylgalactosamine 6 sulfate sulfatase

Indexed keywords

DNA; N ACETYLGALACTOSAMINE 6 SULFATASE; RNA;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTROPHORETIC MOBILITY; ENZYME DEFICIENCY; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; MALE; MISSENSE MUTATION; MORQUIO SYNDROME; NONSENSE MUTATION; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 16944363304     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:3<223::AID-HUMU8>3.0.CO;2-J     Document Type: Article

References (8)

1. Aronovich EL, Pan D, Whitley CB (1996) Molecular genetic defect underlying α-L-Iduronidase pseudodeficiency. Am J Hum Genet 58:75-85.
2. Baker E, Guo XH, Osborn AM, Sutherland OR, Callen DF, Hopwood JJ, Morris CP (1993) The Morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3. Am J Hum Genet 52:96-98.
3. Beck M, Glössl J, Grubisic A, Spranger J (1986) Heterogeneity of Morquio disease. Clin Genet 29:325-331.
4. Bielicki J, Hopwood JJ (1991) N-Acetylgalactosamine 6-sulfatase: Purification and characterization. Biochem J 279:515-520.
5. Bunge S, Fuchs S, Gal A (1996) Simple and Nonisotopic Methods to detect unknown mutations in nucleic acids. In Adolph KW (ed): Methods in Molecular Genetics. Vol. 8: Human Molecular Genetics. San Diego: Academic Press, pp 26-39.
6. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159.
7. Cole DEC, Fukuda S, Gordon BA, Rip JW, LeConteur AN, Rupar CA, Tomatsu S, Ogawa T, Sukegawa K, Orii T (1996) Am J Med Genet 63:558-565.
8. Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maoteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A (1995) A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for Warfarin embryopathy. Cell 81:15-25.