Severe Type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: Molecular and pathological analyses

American Journal of Medical Genetics

Volumn 91, Issue 3, 2000, Pages 222-226

  Finn, Laura S ^a,c   Zhang, Min ^a   Chen, Shi Han ^b   Scott, C Ronald ^b  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

Author keywords

Acute neuronopathic; Anterior horn; Arthrogr yposis; Gaucher disease; Glucocerebrosidase; Glucosylceramide; Ichthyosis; RecNciI

Indexed keywords

GLUCOSYLCERAMIDASE;

APOPTOSIS; ARTHROGRYPOSIS; ARTICLE; BRAIN CORTEX; BRAIN STEM; CASE REPORT; DISEASE ASSOCIATION; FEMALE; GAUCHER DISEASE; HUMAN; ICHTHYOSIS; INFANT; NEWBORN DEATH; PRIORITY JOURNAL; SPINAL CORD VENTRAL HORN;

EID: 0034019274     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(20000320)91:3<222::aid-ajmg13>3.0.co;2-%23     Document Type: Article

References (22)

1. Beutler E, Gelbart T. 1997. Hematologically important mutations. Gaucher's disease. Blood Cells Mol Dis 23:2-7.
2. Beutler E, Grabowski GA. 1995. Gaucher disease. In: Scriver CR. Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease, 7th ed. New York: McGraw-Hill. p 2641-2670.
3. Beutler E, Nguyen NJ, Henneberger MW, Smolec MJ, McPherson RA, West C, Gelbart T. 1993. Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet 52:85-88.
4. Cormand B, Grinberg D, Gort L, Chagas A, Vilageliu L. 1998a. Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome. Hum Mutat 11:295-305.
5. Cormand B, Harboe TL, Gort L, Campoy C, Blanco M, Chamoles N, Chabas A, Vilageliu L, Grinberg D. 1998b. Mutation analysis of Gaucher disease patients from Argentina: High prevalence of the RecNeiI mutation. Am J Med Genet 80:343-351.
6. Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabas A. 1997. Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses. Am J Med Genet 70: 437-443.
7. Fujimoto A, Tayebi N, Sidransky E. 1995. Congenital ichthyosis preceding neurologic symptoms in two sibs with type II Gaucher disease. Am J Med Genet 59:356-358.
8. Hollerman WM, Ginns EI, Menon GK, et al. 1994. Consequences of β-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest 93:1756-1764.
9. Horowitz M, Zimran A. 1994. Mutations causing Gaucher disease. Hum Mutation 3:1-11.
10. Kubota M, Fujii K, Yamanaka C, et al. 1995. Gaucher disease associated with congenital ichthyosis in the neonate. Eur J Pediatr 154:418-422.
11. Long GL, Winfield S, Adolph KW, Ginns EI, Bornstein P. 1996. Structure and organization of the human metaxin gene (MTX) and pseudogene. Genomics 33:177-184.
12. Porter HJ. 1995. Lethal arthrogryposis multiplex congenita (fetal akinesia deformation sequence, FADS). Ped Pathol Lab Med 15:617-637.
13. Schofield DE, Scott CR, Lage JM. Farrell DF. 1992. Gauchers disease in the presence of normal glucocerebrosidase activity. Hum Pathol 23: 588-592.
14. Sidransky E. 1997. New perspectives in type II Gaucher disease. In: Barness LA, editor. Advances in Pediatrics. Vol. 44. New York: Mosby-Year Book, p 73-107.
15. Sidransky E, Sherer DM, Ginns EI. 1992. Gaucher disease in the neonate: A distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. Pediatr Res 32: 494-498.
16. Sidransky E, Tayebi N, Stubblefield BK, Eliason W, Klineburgess A, Pizzolato G, Cox JN, Porta J, Bottani A, DeLozier-Blanchet CD. 1996. The clinical, molecular, and pathological characterization of a family with two cases of lethal perinatal type II Gaucher disease. J Med Genet 33:132-136.
17. Stone DL, van Diggelen OP, de Klerk JB, Niermeijer MF, Willemsen R, Tayebi N, Sidransky E. Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? Eur J Hum Genet 1999;7:505-509.
18. Tayebi N, Cushner ST, Kleijer W, Lau EK, Damschroder-Williams PJ, Stubblefield BK, Den Hollander J, Sidransky E. 1997. Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene. Am J Med Genet 73:41-47.
19. Tayebi N, Reissner KJ, Lau EK, Stubblefield BK, Klineburgess AC, Martin BM, Sidransky E. 1998. Genotypic heterogeneity and phenotypic variation among patients with type II Gaucher's disease. Ped Res 43:571-578.
20. Wenger DA, Williams C. 1991. Screening for lysosomal disorders. In: Hommes FA, editor. Techniques in diagnostic human biochemical genetics: A laboratory manual. New York: Wiley-Liss. p 587-617.
21. Willemsen R, Tybulewicz V, Sidransky E, Eliason WK, Martin BM, LaMarca ME, Reuser AJ, Tremblay M, Westphal H, Mulligan RC. 1995. A biochemical and ultrastructural evaluation of the type II Gaucher mouse. Mol Chem Neuropathol 24:179-192.
22. Winfield SL, Tayebi N, Martin BM, Ginns EI, Sidransky E. 1997. Identification of three additional genes contiguous to the glucocerbrosidase locus on chromosome 1q21: Implications for Gaucher disease. Gen Res 7:1020-1026.