A monozygotic twin pair with highly discordant Gaucher phenotypes

M. Biegstraaten, I. N. van Schaik, J. M.F.G. Aerts, M. Langeveld, M. M.A.M. Mannens, L. J. Bour, E. Sidransky, N. Tayebi, E. Fitzgibbon, C. E.M. Hollak*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

43 Citations (Scopus)
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Abstract

We describe monozygotic twin sisters, born to consanguineous Moroccan parents, who are highly discordant for the manifestations of Gaucher disease. Both carry Gaucher genotype N188S/N188S. One has severe visceral involvement, epilepsy, and a cerebellar syndrome. Her twin does not manifest any symptoms or signs of Gaucher disease but suffers from type 1 diabetes mellitus. The concurrence of a mild Gaucher mutation with a severe phenotype, as well as the occurrence of highly discordant phenotypes in a pair of monozygotic twins, is discussed.

Original languageEnglish
Pages (from-to)39-41
Number of pages3
JournalBlood Cells, Molecules, and Diseases
Volume46
Issue number1
DOIs
Publication statusPublished - 15 Jan 2011
Externally publishedYes

Keywords

  • Gaucher disease
  • Glucocerebrosidase
  • Monozygotic twins
  • Seizures

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