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

37 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

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10.1016/j.ymgme.2005.12.009

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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.",

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AU - Chandler, David

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AU - Hassanova, I.

AU - Gooding, R.L.

AU - Morrone, A.

AU - Kremensky, I.

AU - Kalaydjieva, Luba

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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.

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JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 1

ER -

Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population

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