Null mutations and lethal congenital form of glycogen storage disease type IV

Biochemical and Biophysical Research Communications

Volumn 361, Issue 2, 2007, Pages 445-450

  Assereto, Stefania ^a   van Diggelen, Otto P ^b   Diogo, Luisa ^c   Morava, Eva ^d   Cassandrini, Denise ^a   Carreira, Isabel ^c   de Boode, Willem Pieter ^d   Dilling, Jildau ^d   Garcia, Paula ^c   Henriques, Margarida ^c   Rebelo, Olinda ^c   ter Laak, Henk ^d   Minetti, Carlo ^a   Bruno, Claudio ^a  

^a G GASLINI INSTITUTE   (Italy)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

GBE1 gene; Glycogen branching enzyme deficiency; Glycogen storage disease type IV; Polyglucosan body

Indexed keywords

ANAMNESIS; ARTICLE; CARDIOPULMONARY INSUFFICIENCY; CASE REPORT; CLINICAL FEATURE; DISEASE CLASSIFICATION; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; GLYCOGEN STORAGE DISEASE TYPE 4; GLYCOGEN SYNTHESIS; HUMAN; HUMAN TISSUE; LABORATORY TEST; MORTALITY; MUSCLE BIOPSY; NEWBORN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; STOP CODON;

1,4-ALPHA-GLUCAN BRANCHING ENZYME; AMINO ACID SEQUENCE; BASE SEQUENCE; BIOPSY; BLOTTING, WESTERN; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EXONS; FATAL OUTCOME; FEMALE; FIBROBLASTS; GLYCOGEN STORAGE DISEASE TYPE IV; HUMANS; INFANT, NEWBORN; INTRONS; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION;

EID: 34547515164     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2007.07.074     Document Type: Article

References (29)

1. DiMauro S., Hays A.P., and Tsujino S. Nonlysosomal glycogenoses. In: Engel A.G., and Franzini-Armstrong C. (Eds). Myology (2004), McGraw-Hill, New York 1535-1558
2. Moses S.W., and Parvari R. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr. Mol. Med. 2 (2002) 177-188
3. Brown B.I., and Brown D.H. Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease. Am. J. Hum. Genet. 44 (1989) 378-381
4. Thon V.J., Khalil M., and Cannon J.F. Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast. J. Biol. Chem. 268 (1993) 7509-7513
5. Bao Y., Kishnani P., Wu J.Y., and Chen Y.T. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J. Clin. Invest. 97 (1996) 941-948
6. Lossos A., Meiner Z., Barash V., Soffer D., Schlesinger I., Abramsky O., Argov Z., Shpitzen S., and Meiner V. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. Ann. Neurol. 44 (1998) 867-872
7. Ziemssen F., Sindern E., Schroder J.M., Shin Y.S., Zange J., Kilimann M.W., Malin J.P., and Vorgerd M. Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. Ann. Neurol. 47 (2000) 536-540
8. Nambu M., Kawabe K., Fukuda T., Okuno T.B., Ohta S., Nonaka I., Sugie H., and Nishino I. A neonatal form of glycogen storage disease type IV. Neurology 61 (2003) 392-394
9. Bruno C., van Diggelen O.P., Cassandrini D., Gimpelev M., Giuffre B., Donati M.A., Introvini P., Alegria A., Assereto S., Morandi L., Mora M., Tonoli E., Mascelli S., Traverso M., Pasquini E., Bado M., Vilarinho L., van Noort G., Mosca F., DiMauro S., Zara F., and Minetti C. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology 63 (2004) 1053-1058
10. Tay S.K., Akman H.O., Chung W.K., Pike M.G., Muntoni F., Hays A.P., Shanske S., Valberg S.J., Mickelson J.R., Tanji K., and DiMauro S. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul. Disord. 14 (2004) 253-260
11. Janecke A.R., Dertinger S., Ketelsen U.P., Bereuter L., Simma B., Muller T., Vogel W., and Offner F.A. Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1. J. Pediatr. 145 (2004) 705-709
12. L'hermine-Coulomb A., Beuzen F., Bouvier R., Rolland M.O., Froissart R., Menez F., Audibert F., and Labrune P. Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family. Am. J. Med. Genet. A 139 (2005) 118-122
13. Ubogu E.E., Hong S.T., Akman H.O., DiMauro S., Katirji B., Preston D.C., and Shapiro B.E. Adult polyglucosan body disease: a case report of a manifesting heterozygote. Muscle Nerve 32 (2005) 675-681
14. Burrow T.A., Hopkin R.J., Bove K.E., Miles L., Wong B.L., Choudhary A., Bali D., Li S.C., and Chen Y.T. Non-lethal congenital hypotonia due to glycogen storage disease type IV. Am. J. Med. Genet. A 140 (2006) 878-882
15. den Dunnen J.T., and Paalman M.H. Standardizing mutation nomenclature: why bother?. Hum. Mutat. 22 (2003) 181-182
16. Cassandrini D., Calevo M.G., Tessa A., Manfredi G., Fattori F., Meschini M.C., Carrozzo R., Tonoli E., Pedemonte M., Minetti C., Zara F., Santorelli F.M., and Bruno C. A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy. Biochem. Biophys. Res. Commun. 342 (2006) 387-393
17. van Noort G., Straks W., van Diggelen O.P., and Hennekam R.C. A congenital variant of glycogenosis type IV. Pediatr. Pathol. 13 (1993) 685-698
18. Uro-Coste E., Lelong-Tissier M.C., Maire I., Ceuterick C., Chausseray F., and Delisle M.B. Congenital variant of type IV glycogenosis. Anatomoclinical report of a case. Ann. Pathol. 16 (1996) 449-452
19. Alegria A., Martins E., Dias M., Cunha A., Cardoso M.L., and Maire I. Glycogen storage disease type IV presenting as hydrops fetalis. J. Inherit. Metab. Dis. 22 (1999) 330-332
20. Cox P.M., Brueton L.A., Murphy K.W., Worthington V.C., Bjelogrlic P., Lazda E.J., Sabire N.J., and Sewry C.A. Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis. Am. J. Med. Genet. 86 (1999) 187-193
21. Zellweger H., Mueller S., Ionasescu V., Schochet S.S., and McCormick W.F. Glycogenosis IV. A new cause of infantile hypotonia. J. Pediatr. 80 (1972) 842-844
22. Tang T.T., Segura A.D., Chen Y.T., Ricci L.M., Franciosi R.A., Splaingard M.L., and Lubinsky M.S. Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. Acta Neuropathol. (Berl.) 87 (1994) 531-536
23. Andersen D.H. Familial cirrhosis of the liver with storage of abnormal glycogen. Lab. Invest. 5 (1956) 11-20
24. Greene H.L., Brown B.I., McClenahan D.T., Agostini Jr. R.M., and Taylor S.R. A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease. Hepatology 8 (1988) 302-306
25. Servidei S., Riepe R.E., Langston C., Tani L.Y., Bricker J.T., Crisp-Lindgren N., Travers H., Armstrong D., and DiMauro S. Severe cardiopathy in branching enzyme deficiency. J. Pediatr. 111 (1987) 51-56
26. Reusche E., Aksu F., Goebel H.H., Shin Y.S., Yokota T., and Reichmann H. A mild juvenile variant of type IV glycogenosis. Brain Dev. 14 (1992) 36-43
27. Goebel H.H., Shin Y.S., Gullotta F., Yokota T., Alroy J., Voit T., Haller P., and Schulz A. Adult polyglucosan body myopathy. J. Neuropathol. Exp. Neurol. 51 (1992) 24-35
28. Lossos A., Barash V., Soffer D., Argov Z., Gomori M., Ben-Nariah Z., Abramsky O., and Steiner I. Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. Ann. Neurol. 30 (1991) 655-662
29. Bruno C., Servidei S., Shanske S., Karpati G., Carpenter S., McKee D., Barhon R.J., Hirano M., Rifai Z., and DiMauro S. Glycogen branching enzyme deficiency in adult polyglucosan body disease. Ann. Neurol. 33 (1993) 88-93