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 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.
Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands.
M
M
Biegstraaten
I N
IN
van Schaik
J M F G
JM
Aerts
M
M
Langeveld
M M A M
MM
Mannens
L J
LJ
Bour
E
E
Sidransky
N
N
Tayebi
E
E
Fitzgibbon
C E M
CE
Hollak
D000293:Adolescent; D000328:Adult; D002526:Cerebellar Diseases / Q000209:etiology*; D003922:Diabetes Mellitus, Type 1 / Q000150:complications*; D004200:Diseases in Twins; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005838:Genotype; D005962:Glucosylceramidase / Q000097:blood; D006801:Humans; D009018:Morocco; D009154:Mutation; D010641:Phenotype; D014430:Twins, Monozygotic / Q000235:genetics; D055815:Young Adult
D005962:Glucosylceramidase