Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients

Human Mutation

Volumn 30, Issue 11, 2009, Pages

  Tappino, Barbara ^a   Chuzhanova, Nadia A ^b   Regis, Stefano ^a   Dardis, Andrea ^c   Corsolini, Fabio ^a   Stroppiano, Marina ^a   Tonoli, Emmanuel ^a   Beccari, Tommaso ^d   Rosano, Camillo ^e   Mucha, Jan ^f   Blanco, Mariana ^g   Szlago, Marina ^g   Di Rocco, Maja ^a   Cooper, David N ^h   Filocamo, Mirella ^a  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF CENTRAL LANCASHIRE   (United Kingdom)

^c SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

^d UNIVERSITY OF PERUGIA   (Italy)

^e UNIVERSITY OF GENOA   (Italy)

^f INSTITUTE OF CHEMISTRY   (Slovakia)

^g Laboratorio de Neuroquímica Dr N A Chamoles   (Argentina)

^h CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

GNPTAB; Mucolipidosis II; Mucolipidosis III; Polymorphisms

Indexed keywords

GENOMIC DNA; SUGAR NUCLEOTIDE; UDP N ACETYLGLUCOSAMINE 1 PHOSPHATE TRANSFERASE ALPHA AND BETA SUBUNIT; UNCLASSIFIED DRUG;

ARTICLE; BINDING SITE; BIOINFORMATICS; BLOOD SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; DISABILITY; DNA EXTRACTION; ETHNICITY; FIBROBLAST; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; MISSENSE MUTATION; MOLECULAR GENETICS; MUCOLIPIDOSIS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; WESTERN BLOTTING;

ADOLESCENT; ADULT; ANIMALS; CERCOPITHECUS AETHIOPS; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; COS CELLS; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INFANT; MUCOLIPIDOSES; MUTATION; MUTATION, MISSENSE; SEQUENCE DELETION; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS);

EID: 70350705967     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21099     Document Type: Article

References (36)

1. Bacolla A, Jaworski A, Larson JE, Jakupciak JP, Chuzhanova N, Abeysinghe SS, O'Connell CD, Cooper DN, Wells RD. 2004. Breakpoints of gross deletions coincide with non-B DNA conformations. Proc Natl Acad Sci USA 101:14162-14167. (Pubitemid 39305047)
2. Bacolla A, Wells RD. 2004. Non-B DNA conformations, genomic rearrangements, and human disease. J Biol Chem 279:47411-47414. (Pubitemid 39540882)
3. Ball EV, Stenson PD, Krawczak M, Cooper DN, Chuzhanova NA. 2005. Micro-deletions and micro-insertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat 26:205-213. (Pubitemid 41254376)
4. Bao M, Booth JL, Elmendorf BJ, Canfield WM. 1996a. Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine- 1-phosphotransferase. I. Purification and subunit structure. J Biol Chem 271:31437-31445. (Pubitemid 26408598)
5. Bao M, Elmendorf BJ, Booth JL, Drake RR, Canfield WM. 1996b. Bovine UDP-N-acetylglucosamine: lysosomal-enzyme N-acetylglucosamine-1- phosphotransferase. II. Enzymatic characterization and identification of the catalytic subunit. J Biol Chem 271:31446-31451. (Pubitemid 26408599)
6. Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A. 2006. When mucolipidosis III meets mucolipidosis II: GNPTA gene mutations in 24 patients. Mol Genet Metab 88:359-363. (Pubitemid 44131509)
7. Cathey SS, Kudo M, Tiede S, Raas-Rothschild A, Braulke T, Beck M, Taylor HA, Canfield WM, Leroy JG, Neufeld EF, McKusick VA. 2008. Molecular order in mucolipidosis II and III nomenclature. Am J Med Genet A 14:512-513. (Pubitemid 351206827)
8. Chuzhanova NA, Anassis EJ, Ball E, Krawczak M, Cooper DN. 2003. Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat 21:28-44. (Pubitemid 36070454)
9. den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
10. den Dunnen JT, Paalman MH. 2003. Standardizing mutation nomenclature: why bother? Hum Mutat 2:181-182.
11. Filocamo M, Superti-Furga A, Uras A, Borrone C, Gatti R, Durand P. 1982. Banca di cellule umane mutanti: interesse per la diagnosi, la prevenzione e lo studio delle malattie metaboliche. Riv Ital Pediatr 8:313-314.
12. Francalacci P, Morelli L, Underhill PA, Lillie AS, Passarino G, Useli A, Madeddu R, Paoli G, Tofanelli S, Calò CM, Ghiani ME, Varesi L, Memmi M, Vona G, Lin AA, Oefner P, Cavalli-Sforza LL. 2003. Peopling of three Mediterranean islands (Corsica, Sardinia, and Sicily) inferred by Y-chromosome biallelic variability. Am J Phys Anthropol 121:270-279. (Pubitemid 36705913)
13. Gusev VD, Nemytikova LA, Chuzhanova NA. 1999. On the complexity measures of genetic sequences. Bioinformatics 15:994-999.
14. Hasilik A, Neufeld EF. 1980. Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues. J Biol Chem 255:4946-4950. (Pubitemid 10049708)
15. Kaplan A, Achord DT, Sly WS. 1977. Phosphohexosyl components of a lysosomal enzyme are recognized by pinocytosis receptors on human fibroblasts. Proc Natl Acad Sci USA 74:2026-2030. (Pubitemid 8123602)
16. Kornfeld S, Sly WS. 2001. I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. In: Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B, Kinzler KW, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; pp.3469-3505.
17. Krawczak M, Thomas NS, Hundrieser B, Mort M, Wittig M, Hampe J, Cooper DN. 2007. Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Hum Mutat 28:150-158. (Pubitemid 46233312)
18. Kudo M, Bao M, D'Souza A, Ying F, Pan H, Roe BA, Canfield WM. 2005. The alpha- and beta-subunits of the human UDP-N-acetylglucosamine: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA. J Biol Chem 280:36141-36149. (Pubitemid 41633886)
19. Kudo M, Brem MS, Canfield WM. 2006. Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha/beta-subunits precursor gene. Am J Hum Genet 78:451-463. (Pubitemid 43291227)
20. Kudo M, Canfield WM. 2006. Structural requirements for efficient processing and activation of recombinant human UDP-N-acetylglucosamine: lysosomal-enzyme-N-acetylglucosamine-1-phosphotransferase. J Biol Chem 281:11761-11768. (Pubitemid 43855435)
21. Lam CW, Yan MS, Li CK, Lau KC, Tong SF, Tang HY. 2007. 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 376:250-252.
22. Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N. 2009. Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet 54:145-151.
23. Paik KH, Song SM, Ki CS, Yu HW, Kim JS, Min KH, Chang SH, Yoo EJ, Lee IJ, Kwan EK, Han SJ, Jin DK. 2005. 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 26:308-314.
24. Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NST, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T. 2009. Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. Hum Mutat In press.
25. Raas-Rothschild A, Bargal R, Goldman O, Ben-Asher E, Groener JE, Toutain A, Stemmer E, Ben-Neriah Z, Flusser H, Beemer FA, Penttinen M, Olender T, Rein AJ, Bach G, Zeigler M. 2004. Genomic organisation of the UDP-N- acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis. III. J Med Genet 41:e52.
26. Raas-Rothschild A, Cormier-Daire V, Bao M, Genin E, Salomon R, Brewer K, Zeigler M, Mandel H, Toth S, Roe B, Munnich A, Canfield WM. 2000. Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC) J Clin Invest. 105:673-681. (Pubitemid 30146514)
27. Regis S, Grossi S, Lualdi S, Biancheri R, Filocamo M. 2005. Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR. Neurogenetics 6:73-78. (Pubitemid 40768117)
28. Sanford JR, Wang X, Mort M, Vanduyn N, Cooper DN, Mooney SD, Edenberg HJ, Liu Y. 2009. Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts. Genome Res 19:381-394.
29. Schwartz EI, Shevtsov SP, Kuchinski AP, Kovalev YP, Plutalov OV, Berlin YA. 1991. Approach to identification of a point mutation in apo B100 gene by means of a PCR-mediated site-directed mutagenesis. Nucleic Acids Res 19:3752.
30. Steet RA, Hullin R, Kudo M, Martinelli M, Bosshard NU, Schaffner T, Kornfeld S, Steinmann B. 2005. A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. Am J Med Genet A 132:369-375. (Pubitemid 40175586)
31. Streisinger G, Okada Y, Emrich J, Newton J, Tsugita A, Terzaghi E, Inouye M. 1966. Frameshift mutations and the genetic code. Cold Spring Harbor Symp Quant Biol 31:77-84.
32. Tappino B, Regis S, Corsolini F, Filocamo M. 2008. An Alu-insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies mucolipidosis II. Mol Genet Metab 93:129-133.
33. Tiede S, Cantz M, Raas-Rothschild A, Muschol N, Bürger F, Ullrich K, Braulke T. 2004. A novel mutation in UDP-N-acetylglucosamine- 1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site. Hum Mutat. 24:535.
34. Tiede S, Cantz M, Spranger J, Braulke T. 2006. Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG. Hum Mutat 27:830-831.
35. Tiede S, Muschol N, Reutter G, Cantz M, Ullrich K, Braulke T. 2005a. Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype. Am J Med Genet A 137:235-420. (Pubitemid 41262653)
36. Tiede S, Storch S, Lubke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T. 2005b. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nat Med 11:1109-1112. (Pubitemid 41486834)