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

doi:https://doi.org/10.1016/j.bcmd.2010.10.007

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

Research output: Contribution to journal › Article › Academic › peer-review

54 Citations (Scopus)

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. (C) 2010 Elsevier Inc. All rights reserved

Original language	English
Pages (from-to)	39-41
Journal	Blood cells, molecules & diseases
Volume	46
Issue number	1
DOIs	https://doi.org/10.1016/j.bcmd.2010.10.007
Publication status	Published - 2011

Access to Document

https://doi.org/10.1016/j.bcmd.2010.10.007

Cite this

@article{7816931b3f3f439dba3cbe3a3d555fee,

title = "A monozygotic twin pair with highly discordant Gaucher phenotypes",

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. (C) 2010 Elsevier Inc. All rights reserved",

author = "M. Biegstraaten and {van Schaik}, {I. N.} and Aerts, {J. M. F. G.} and M. Langeveld and Mannens, {M. M. A. M.} and Bour, {L. J.} and E. Sidransky and N. Tayebi and E. Fitzgibbon and Hollak, {C. E. M.}",

year = "2011",

doi = "https://doi.org/10.1016/j.bcmd.2010.10.007",

language = "English",

volume = "46",

pages = "39--41",

journal = "Blood cells, molecules & diseases",

issn = "1079-9796",

publisher = "Academic Press Inc.",

number = "1",

}

TY - JOUR

T1 - A monozygotic twin pair with highly discordant Gaucher phenotypes

AU - Biegstraaten, M.

AU - van Schaik, I. N.

AU - Aerts, J. M. F. G.

AU - Langeveld, M.

AU - Mannens, M. M. A. M.

AU - Bour, L. J.

AU - Sidransky, E.

AU - Tayebi, N.

AU - Fitzgibbon, E.

AU - Hollak, C. E. M.

PY - 2011

Y1 - 2011

N2 - 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. (C) 2010 Elsevier Inc. All rights reserved

AB - 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. (C) 2010 Elsevier Inc. All rights reserved

U2 - https://doi.org/10.1016/j.bcmd.2010.10.007

DO - https://doi.org/10.1016/j.bcmd.2010.10.007

M3 - Article

C2 - 21056933

SN - 1079-9796

VL - 46

SP - 39

EP - 41

JO - Blood cells, molecules & diseases

JF - Blood cells, molecules & diseases

IS - 1

ER -