Mucolipidosis in a Chinese family with compound heterozygous mutations at the GNPTAB gene

Clinica Chimica Acta

Volumn 412, Issue 15-16, 2011, Pages 1469-1471

  Zhan, Tailan ^a   Cui, Xiukun ^a   Xing, Xuenong ^b   Ren, An ^b   Gan, Guanqi ^a   Liu, Ying ^a   Zhang, Jing ^a   Tang, Zhaohui ^a   Liu, Mugen ^a  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b ANHUI PROVINCIAL HOSPITAL   (China)

Author keywords

Compound heterozygotes; GNPTAB; Mucolipidosis; Mucopolysaccharidosis

Indexed keywords

ADENINE; GUANINE;

ADULT; ARTICLE; CHINESE; DNA DETERMINATION; DNA FLANKING REGION; DNA SEQUENCE; FAMILY STUDY; GENE; GENE LOCUS; GENE MUTATION; GNPTAB GENE; HETEROZYGOTE; HUMAN; LINKAGE ANALYSIS; MICROSATELLITE MARKER; MOLECULAR DIAGNOSIS; MUCOLIPIDOSIS; MUCOPOLYSACCHARIDOSIS; MUTATIONAL ANALYSIS; PRIORITY JOURNAL;

ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE DETECTION; HUMANS; MALE; MUCOLIPIDOSES; MUTATION; PEDIGREE; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS);

EID: 79956307785     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2011.04.025     Document Type: Article

References (13)

1. Hasilik A., Waheed A., von Figura K. Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in I-cell fibroblasts. Biochem Biophys Res Commun 1981, 98:761-767.
2. Reitman M.L., Varki A., Kornfeld S. Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity. J Clin Invest 1981, 67:1574-1579.
3. Pohlmann R., Waheed A., Hasilik A., von Figura K. Synthesis of phosphorylated recognition marker in lysosomal enzymes is located in the cis part of Golgi apparatus. J Biol Chem 1982, 257:5323-5325.
4. Wiesmann U.N., Lightbody J., Vassella F., Herschkowitz N.N. Multiple lysosomal deficiency due to enzyme leakage?. N Engl J Med 1971, 284:109-110.
5. Leroy J.G., Ho M.W., MacBrinn M.C., Zielke K., Jacob J., O'Brien J.S. I-cell disease: biochemical studies. Pediatr Res 1972, 6:752-757.
6. Braulke T., Pohl S., Storch S. Molecular analysis of the GlcNac-1-phosphotransferase. J Inherit Metab Dis 2008, 31:253-257.
7. Cathey S.S., Leroy J.G., Wood T., et al. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet 2010, 47:38-48.
8. Valayannopoulos V., Nicely H., Harmatz P., Turbeville S. Mucopolysaccharidosis VI. Orphanet J Rare Dis 2010, 5:5.
9. Lam C.W., Yan M.S., Li C.K., Lau K.C., Tong S.F., Tang H.Y. DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: a chance of 1 in 7.6 trillion. Clin Chim Acta 2007, 376:250-252.
10. Manger B. Lysosomal storage diseases. Z Rheumatol 2010, 69:527-538.
11. Tappino B., Chuzhanova N.A., Regis S., et al. Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients. Hum Mutat 2009, 30:E956-E973.
12. Paik K.H., Song S.M., Ki C.S., et al. Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA. Hum Mutat 2005, 26:308-314.
13. Otomo T., Muramatsu T., Yorifuji T., et al. Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet 2009, 54:145-151.