A monozygotic twin pair with highly discordant Gaucher phenotypes

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 sympto...

Full description

Saved in:
Bibliographic Details
Published inBlood cells, molecules, & diseases Vol. 46; no. 1; pp. 39 - 41
Main Authors Biegstraaten, M., van Schaik, I.N., Aerts, J.M.F.G., Langeveld, M., Mannens, M.M.A.M., Bour, L.J., Sidransky, E., Tayebi, N., Fitzgibbon, E., Hollak, C.E.M.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 15.01.2011
Subjects
Adolescent
Adult
Cerebellar Diseases - etiology
Diabetes Mellitus, Type 1 - complications
Diseases in Twins
Female
Gaucher disease
Gaucher Disease - complications
Gaucher Disease - diagnosis
Gaucher Disease - genetics
Gaucher Disease - pathology
Genotype
Glucocerebrosidase
Glucosylceramidase - blood
Humans
Monozygotic twins
Morocco
Mutation
Phenotype
Seizures
Twins, Monozygotic - genetics
Young Adult
Morocco
Glucocerebrosidase
Gaucher disease
Monozygotic twins
Seizures
Online AccessGet full text

Cover

More Information
Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:1079-9796
1096-0961
DOI:10.1016/j.bcmd.2010.10.007