Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population

I. Sinigerska; David Chandler; V. Vaghjiani; I. Hassanova; R.L. Gooding; A. Morrone; I. Kremensky; Luba Kalaydjieva

doi:10.1016/j.ymgme.2005.12.009

Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population

I. Sinigerska, David Chandler, V. Vaghjiani, I. Hassanova, R.L. Gooding, A. Morrone, I. Kremensky, Luba Kalaydjieva

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

34 Citations (Scopus)

Abstract

The Gypsies are a trans-national founder population of Asian descent, whose genetic heritage is still incompletely characterized. Here, we describe the first founder mutation leading to a lysosomal storage disorder in this population: R59H in GLB1, which causes infantile GM1-gangliosidosis. The R59H carrier rate is similar to 2% in the general Gypsy Population and similar to 10% in the Rudari sub-isolate. Haplotype analysis suggests that the Gypsy diaspora may have contributed to the spread of this mutation to South America. (c) 2006 Elsevier Inc. All rights reserved.

Original language	English
Pages (from-to)	93-95
Journal	Molecular Genetics and Metabolism
Volume	88
Issue number	1
DOIs	https://doi.org/10.1016/j.ymgme.2005.12.009
Publication status	Published - 2006

Access to Document

10.1016/j.ymgme.2005.12.009

Cite this

@article{55fbd570a6f0414ba8ba988cda311938,

title = "Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population",

abstract = "The Gypsies are a trans-national founder population of Asian descent, whose genetic heritage is still incompletely characterized. Here, we describe the first founder mutation leading to a lysosomal storage disorder in this population: R59H in GLB1, which causes infantile GM1-gangliosidosis. The R59H carrier rate is similar to 2% in the general Gypsy Population and similar to 10% in the Rudari sub-isolate. Haplotype analysis suggests that the Gypsy diaspora may have contributed to the spread of this mutation to South America. (c) 2006 Elsevier Inc. All rights reserved.",

author = "I. Sinigerska and David Chandler and V. Vaghjiani and I. Hassanova and R.L. Gooding and A. Morrone and I. Kremensky and Luba Kalaydjieva",

year = "2006",

doi = "10.1016/j.ymgme.2005.12.009",

language = "English",

volume = "88",

pages = "93--95",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",

publisher = "Academic Press",

number = "1",

}

TY - JOUR

T1 - Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population

AU - Sinigerska, I.

AU - Chandler, David

AU - Vaghjiani, V.

AU - Hassanova, I.

AU - Gooding, R.L.

AU - Morrone, A.

AU - Kremensky, I.

AU - Kalaydjieva, Luba

PY - 2006

Y1 - 2006

N2 - The Gypsies are a trans-national founder population of Asian descent, whose genetic heritage is still incompletely characterized. Here, we describe the first founder mutation leading to a lysosomal storage disorder in this population: R59H in GLB1, which causes infantile GM1-gangliosidosis. The R59H carrier rate is similar to 2% in the general Gypsy Population and similar to 10% in the Rudari sub-isolate. Haplotype analysis suggests that the Gypsy diaspora may have contributed to the spread of this mutation to South America. (c) 2006 Elsevier Inc. All rights reserved.

AB - The Gypsies are a trans-national founder population of Asian descent, whose genetic heritage is still incompletely characterized. Here, we describe the first founder mutation leading to a lysosomal storage disorder in this population: R59H in GLB1, which causes infantile GM1-gangliosidosis. The R59H carrier rate is similar to 2% in the general Gypsy Population and similar to 10% in the Rudari sub-isolate. Haplotype analysis suggests that the Gypsy diaspora may have contributed to the spread of this mutation to South America. (c) 2006 Elsevier Inc. All rights reserved.

U2 - 10.1016/j.ymgme.2005.12.009

DO - 10.1016/j.ymgme.2005.12.009

M3 - Article

C2 - 16466959

SN - 1096-7192

VL - 88

SP - 93

EP - 95

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 1

ER -

Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population

Abstract

Access to Document

Fingerprint

Cite this