Skip to main content
PMC home page
Archives of Disease in Childhood. Fetal and Neonatal Edition logoLink to Archives of Disease in Childhood. Fetal and Neonatal Edition
. 2000 Mar;82(2):F163–F166. doi: 10.1136/fn.82.2.F163

Type 2 Gaucher disease: the collodion baby phenotype revisited

D Stone, W Carey, J Christodoulou, D Sillence, P Nelson, M Callahan, N Tayebi, E Sidransky
PMCID: PMC1721053  PMID: 10685993

Abstract

The association of Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase (EC 3.2.1.45), and congenital ichthyosis was first noted a decade ago. Subsequently, a null allele type 2 Gaucher mouse was generated that also exhibited ichthyotic skin, confirming that the skin disorder and enzyme deficiency were directly related. This paper details the clinical and molecular characterisation of 6 cases of type 2 Gaucher disease presenting with the collodion baby phenotype. The identified mutant glucocerebrosidase alleles include two novel mutations (S196P and R131L) and two rare point mutations (R120W and R257Q), as well as alleles resulting from recombination with the nearby glucocerebrosidase pseudogene. There is significant genotypic heterogeneity in this rare subset of patients with type 2 Gaucher disease. Gaucher disease should be considered in the differential diagnosis of congenital ichthyosis in the newborn period.



Full Text

The Full Text of this article is available as a PDF (112.2 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Beutler E., Demina A., Gelbart T. Glucocerebrosidase mutations in Gaucher disease. Mol Med. 1994 Nov;1(1):82–92. [PMC free article] [PubMed] [Google Scholar]
  2. Beutler E., Gelbart T., Balicki D., Demina A., Adusumalli J., Elsas L., 2nd, Grinzaid K. A., Gitzelmann R., Superti-Furga A., Kattamis C. Gaucher disease: four families with previously undescribed mutations. Proc Assoc Am Physicians. 1996 May;108(3):179–184. [PubMed] [Google Scholar]
  3. Fujimoto A., Tayebi N., Sidransky E. Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease. Am J Med Genet. 1995 Nov 20;59(3):356–358. doi: 10.1002/ajmg.1320590315. [DOI] [PubMed] [Google Scholar]
  4. Grace M. E., Ashton-Prolla P., Pastores G. M., Soni A., Desnick R. J. Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease. J Clin Invest. 1999 Mar;103(6):817–823. doi: 10.1172/JCI5168. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Holleran W. M., Ginns E. I., Menon G. K., Grundmann J. U., Fartasch M., McKinney C. E., Elias P. M., Sidransky E. Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest. 1994 Apr;93(4):1756–1764. doi: 10.1172/JCI117160. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Ince Z., Coban A., Peker O., Ince U., Can G. Gaucher disease associated with congenital ichthyosis in the neonate. Eur J Pediatr. 1995 May;154(5):418–418. doi: 10.1007/BF02072120. [DOI] [PubMed] [Google Scholar]
  7. Lipson A. H., Rogers M., Berry A. Collodion babies with Gaucher's disease--a further case. Arch Dis Child. 1991 May;66(5):667–667. doi: 10.1136/adc.66.5.667-a. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Lui K., Commens C., Choong R., Jaworski R. Collodion babies with Gaucher's disease. Arch Dis Child. 1988 Jul;63(7):854–856. doi: 10.1136/adc.63.7.854. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Rowlands S., Murray H. Prenatal ultrasound findings in a fetus diagnosed with Gaucher's disease (type 2) at birth. Prenat Diagn. 1997 Aug;17(8):765–769. doi: 10.1002/(sici)1097-0223(199708)17:8<765::aid-pd122>3.0.co;2-3. [DOI] [PubMed] [Google Scholar]
  10. Sidransky E., Bottler A., Stubblefield B., Ginns E. I. DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype? Hum Mutat. 1994;3(1):25–28. doi: 10.1002/humu.1380030105. [DOI] [PubMed] [Google Scholar]
  11. Sidransky E., Fartasch M., Lee R. E., Metlay L. A., Abella S., Zimran A., Gao W., Elias P. M., Ginns E. I., Holleran W. M. Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease. Pediatr Res. 1996 Jan;39(1):134–141. doi: 10.1203/00006450-199601000-00020. [DOI] [PubMed] [Google Scholar]
  12. Sidransky E. New perspectives in type 2 Gaucher disease. Adv Pediatr. 1997;44:73–107. [PubMed] [Google Scholar]
  13. Sidransky E., Sherer D. M., Ginns E. I. 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. 1992 Oct;32(4):494–498. doi: 10.1203/00006450-199210000-00023. [DOI] [PubMed] [Google Scholar]
  14. Sidransky E., Tayebi N., Stubblefield B. K., Eliason W., Klineburgess A., Pizzolato G. P., Cox J. N., Porta J., Bottani A., DeLozier-Blanchet C. D. The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease. J Med Genet. 1996 Feb;33(2):132–136. doi: 10.1136/jmg.33.2.132. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Sinclair G., Choy F. Y., Humphries L. A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease. Blood Cells Mol Dis. 1998 Dec;24(4):420–427. doi: 10.1006/bcmd.1998.0210. [DOI] [PubMed] [Google Scholar]
  16. Stone D. L., van Diggelen O. P., de Klerk J. B., Gaillard J. L., Niermeijer M. F., 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 May-Jun;7(4):505–509. doi: 10.1038/sj.ejhg.5200315. [DOI] [PubMed] [Google Scholar]
  17. Strasberg P. M., Skomorowski M. A., Warren I. B., Hilson W. L., Callahan J. W., Clarke J. T. Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model? Biochem Med Metab Biol. 1994 Oct;53(1):16–21. doi: 10.1006/bmmb.1994.1052. [DOI] [PubMed] [Google Scholar]
  18. Tayebi N., Cushner S., Sidransky E. Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease. Am J Hum Genet. 1996 Sep;59(3):740–741. [PMC free article] [PubMed] [Google Scholar]
  19. Tayebi N., Reissner K. J., Lau E. K., Stubblefield B. K., Klineburgess A. C., Martin B. M., Sidransky E. Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease. Pediatr Res. 1998 May;43(5):571–578. doi: 10.1203/00006450-199805000-00003. [DOI] [PubMed] [Google Scholar]
  20. Tayebi N., Stern H., Dymarskaia I., Herman J., Sidransky E. 55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles. Am J Med Genet. 1996 Dec 18;66(3):316–319. doi: 10.1002/(SICI)1096-8628(19961218)66:3<316::AID-AJMG15>3.0.CO;2-P. [DOI] [PubMed] [Google Scholar]
  21. Tybulewicz V. L., Tremblay M. L., LaMarca M. E., Willemsen R., Stubblefield B. K., Winfield S., Zablocka B., Sidransky E., Martin B. M., Huang S. P. Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature. 1992 Jun 4;357(6377):407–410. doi: 10.1038/357407a0. [DOI] [PubMed] [Google Scholar]
  22. Walley A. J., Harris A. A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher's disease. Hum Mol Genet. 1993 Oct;2(10):1737–1738. doi: 10.1093/hmg/2.10.1737. [DOI] [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood. Fetal and Neonatal Edition are provided here courtesy of BMJ Publishing Group

RESOURCES