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: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^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-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 language	English
Pages (from-to)	39-41
Number of pages	3
Journal	Blood Cells, Molecules, and Diseases
Volume	46
Issue number	1
DOIs	https://doi.org/10.1016/j.bcmd.2010.10.007
Publication status	Published - 15 Jan 2011
Externally published	Yes

Keywords

Gaucher disease
Glucocerebrosidase
Monozygotic twins
Seizures

Access to Document

10.1016/j.bcmd.2010.10.007

Biegstraaten-2011-A-monozygotic-twin-pair-with-highlyAccepted author version, 866 KBLicence: CC BY-NC-ND

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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.",

keywords = "Gaucher disease, Glucocerebrosidase, Monozygotic twins, Seizures",

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",

month = jan,

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doi = "10.1016/j.bcmd.2010.10.007",

language = "English",

volume = "46",

pages = "39--41",

journal = "Blood Cells, Molecules, and Diseases",

issn = "1079-9796",

publisher = "Academic Press Inc.",

number = "1",

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A monozygotic twin pair with highly discordant Gaucher phenotypes. / 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.

In: Blood Cells, Molecules, and Diseases, Vol. 46, No. 1, 15.01.2011, p. 39-41.

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

TY - JOUR

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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 - 2011/1/15

Y1 - 2011/1/15

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.

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.

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KW - Glucocerebrosidase

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KW - Seizures

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