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Case Reports
. 2011 Jan 15;46(1):39-41.
doi: 10.1016/j.bcmd.2010.10.007. Epub 2010 Nov 5.

A monozygotic twin pair with highly discordant Gaucher phenotypes

M Biegstraaten  1 , 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
Affiliations
Case Reports

A monozygotic twin pair with highly discordant Gaucher phenotypes

M Biegstraaten et al. Blood Cells Mol Dis. .

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.

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Figures

Fig. 1
Fig. 1
Horizontal eye movements. The patient is asked to follow a horizontally moving red dot. Green line= movement of red dot, blue line = movement of right eye, red line = movement of left eye.
See this image and copyright information in PMC

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