Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene

Annals of Neurology

Volumn 41, Issue 5, 1997, Pages 631-638

  Navon, Ruth ^a,b   Khosravi, Rami ^a,b   Melki, Judith ^c   Drucker, Liat ^a,b   Fontaine, Bertrand ^c   Turpin, Jean Claude ^c   N'Guyen, Bathien ^f   Fardeau, Michel ^d   Rondot, Pierre ^e   Baumann, Nicole ^c  

^a TEL AVIV UNIVERSITY   (Israel)

^b MEIR MEDICAL CENTER   (Israel)

^c INSERM   (France)

^d Unit 13   (Australia)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f Sainte Anne Hospital   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A; COMPLEMENTARY DNA; MESSENGER RNA;

ADULT; ARTICLE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENE EXPRESSION; GENE MUTATION; GM2 GANGLIOSIDOSIS; HUMAN; HUMAN CELL; MALE; MUSCLE WEAKNESS; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SPINAL MUSCULAR ATROPHY;

ADULT; BASE SEQUENCE; BETA-N-ACETYLHEXOSAMINIDASE; DNA, COMPLEMENTARY; FEMALE; FIBROBLASTS; G(M2) GANGLIOSIDE; GENE AMPLIFICATION; HUMANS; LEUKOCYTES; MUSCULAR ATROPHY, SPINAL; PEDIGREE; POINT MUTATION; RNA, MESSENGER;

EID: 0031007012     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410410512     Document Type: Article

References (48)

1. Roberts DF, Chavez J, Court SDM. The genetic component in child mortality. Arch Dis Child 1970;45:33-38
2. Munsat TL, Davis KE. Meeting report: international SMA consortium meeting. Neuromusc Disord 1992;2:423-428
3. Brzustowicz LM, Lehner T, Castilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-q13.3. Nature 1990;344:540-541
4. Melki J, Abdelhak S, Sheth P, et al. Gene for the proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990;344:767-768
5. Lefèvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-165
6. M2 gangliosidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease. New York: McGraw-Hill, 1995:2839-2879
7. Neufeld EF. Natural history and inherited disorders of a lysosomal enzyme, β-hexosaminidase. J Biol Chem 1989;264: 10927-10930
8. 2 gangliosidosis resulting from hexosaminidase A deficiency. Ann Neurol 1984;16:14-20
9. Navon R, Argov Z, Frisch A. Hexosaminidase A deficiency in adults. Am J Med Genet 1986;24:179-196
10. M2 gangliosidosis. Br J Psychiatry 1988;153: 387-389
11. M2 gangliosidosis: clinical and enzymatic heterogeneity. Neurology 1990;40:145-150
12. Johnson WG, Wigger J, Karp HR, et al. Juvenile spinal muscular atrophy: a new hexosaminidase A deficiency phenotype. Ann Neurol 1982;11:11-16
13. M2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron disease phenotype. Clin Neuropathol 1982;1:39-44
14. Mitsumoto H, Sliman RJ, Schafer IA, et al. Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration. Ann Neurol 1985;17: 378-385
15. Parnes S, Karpati G, Carpenter S, et al. Hexosaminidase A deficiency presenting as atypical juvenile onset spinal muscular atrophy. Arch Neurol 1985;42:1176-1180
16. Karni A, Navon R, Sadeh M. Hexosaminidase A deficiency manifesting as spinal muscular atrophy of late onset. Ann Neurol 1988;24:451-453
17. M2 gangliosidosis. Neurology 1995;45:539-543
18. M2 gangliosidosis, the adult form of Tay-Sachs disease. Science 1989;243:1471-1474
19. 2 gangliosidosis in patients of Ashkenazi Jewish origin: substitution of serine for glycine ar position 269 of the a subunit of β-hexosaminidase. Proc Natl Acad Sci USA 1989;86:2413-2417
20. M2 gangliosidosis patients share a common genetic defect. Am J Hum Genet 1990;46:817-821
21. O'Brien JS, Okada S, Chen A, Fillerup DL. Tay-Sachs disease: detection of heterozygotes and homozygotes by hexosaminidase assay. N Engl J Med 1970;283:15-20
22. Kaback MM. Thermal fractionation of serum hexosaminidase: applications to heterozygote detection and diagnosis of Tay-Sachs disease. Methods Enzymol 1972;28:862-867
23. M2 gangliosidosis in leukocytes. Clin Genet 1984;26:318-321
24. Tettamanti G, Bonnali F, Marchesini S, Zambotti V. A new procedure for the extraction, purification and fractionation of brain gangliosides. Biochim Biophys Acta 1973;296:160-170
25. Ghidoni R, Sonnino S, Masserini M, et al. Specific tritium labeling of gangliosides at the 3-position of sphingosines. J Lipid Res 1981;25:620-629
26. M2-gangliosidosis. Biochim Biophys Acta 1985;834:238-248
27. Masson M, Li WX, Fluharty AL, et al. Improved synthesis of (1-14 C) acyl-sphingosine-galactose-3-sulfate (sulfatide) for diagnosis of metachromatic leukodystrophy: usefulness of radioscanning. Clin Chim Acta 1991;201:157-168
28. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215
29. Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989;5:874-879
30. Triggs-Raine BL, Akerman BR, Clarke JTR, Gravel RA. Sequence of DNA flanking the exons of the HEXA gene and identification of mutations in Tay-Sachs disease. Am J Hum 1991;49:1041-1054
31. Myerowitz R, Piekarz R, Neufeld EF, et al. Human β-hexosaminidase α chain: coding sequence and homology with the β chain. Proc Natl Acad Sci USA 1985;82:7830-7834
32. Fuerst TR, Niles EG, Studier FW, Moss B. Eukaryotic transient expression system based on recombinant vaccinia virus that synthesizes bacteriophage T7 RNA polymerase. Proc Natl Acad Sci USA 1986;83:8122-8126
33. Moss B, Earl PL. Protein expression. In: Ausubel FM, Brent R, Kingston RE, et al, eds. Current protocols in molecular biology, vol 2. New York: John Wiley, 1995: unit 16.19.1-16.19.9
34. Kingston RE. Introduction of DNA into mammalian cells. In: Ausubel FM, Brent R, Kingston RE, et al, eds. Current protocols in molecular biology. New York: John Wiley, 1995:1: 9.1.1-9.1.3
35. M2 gangliosidosis. Neurology 1993;43:2055-2058
36. Pearn J. Classification of spinal muscular atrophies. Lancet 1980;1:919-922
37. M2 gangliosidosis with hexosaminidase A and B defect: report of a family with motor-neuron disease-like phenotype. J Inherit Metab Dis 1986;9(suppl 2):307-310
38. Harmon DL, Gardner-Medwin D, Stirling JL. Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the β-hexosaminidase α subunit gene. J Med Genet 1993; 30:123-128
39. Mules EH, Hayflick S, Miller CS, et al. Six novel deleterious and 3 neutral mutations in the gene encoding the α-subunit of hexosaminidase A in non-Jewish individuals. Am J Hum Genet 1992;50:834-841
40. Kozak M. Comparison of initiation of protein synthesis in procaryotes, eucaryotes and organelles. Microbiol Rev 1983:47: 1-45
41. Pirastu M, Sagio G, Chang JC, et al. Initiation codon mutation as a cause of a thalassemia. J Biol Chem 1984;259:12315-12317
42. Moi P, Cash FE, Liebhaber SA, et al. An initiation codon mutation (AUG→GUG) of the human α1-globin gene: structural characterization and evidence for a mild thalassemic phenotype. J Clin Invest 1987;80:1416-1421
43. Mitchel GA, Brody LC, Steel G, et al. An initiator codon mutation in ornithine-δ-aminotransferase causing gyrate atrophy of the choroid and retina. J Clin Invest 1988;81:630-633
44. Fojo SS, de Gennes JL, Chapman J, et al. An initiation codon mutation in the ApoC-II gene (ApoC-IIparis) of a patient with a deficiency of apolipoprotein C-II. J Biol Chem 1989;264: 20839-20842
45. Patten JL, Johns DR, Valee D, et al. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med 1990;322: 1412-1419
46. Hann SR, King MW, Bentley DL, et al. A non-AUG translation initiation in c-myc exon 1 generates an N-terminally distinct protein whose synthesis is disrupted in Burkitt's lymphomas. Cell 1988;52:185-195
47. Clements JM, Laz TM, Sherman F. Efficiency of translation initiation by non-AUG codons in Saccharomyces cerevisiae. Mol Cell Biol 1988;8:4533-4536
48. Peabody DS. Translation initiation at an ACG triplet in mammalian cells. J Biol Chem 1987;262:11847-11851