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Title
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**GIGYF2** has no major role in Parkinson genetic etiology in a Belgian population
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Author
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Abstract
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| Missense mutations were identified in the Grb10-Interacting GYF Protein-2 gene (GIGYF2), located in the chromosomal region 2q36-q37, in familial Parkinson disease (PD) patients of European descent. To determine the contribution of GIGYF2 mutations in an extended (N= 305) Belgian series of both familial and sporadic PD patients, we sequenced all 32 coding and non-coding exons of GIGYF2. In three sporadic PD patients we identified two novel heterozygous missense mutations (c.1907A>G, p.Tyr636Cys and c.2501G>A, p.Arg834Gln), that were absent from control individuals (N= 360). However, since we lack genetic as well as functional data supporting their pathogenic nature, we cannot exclude that these variants are benign polymorphisms. Together, our results do not support a role for GIGYF2 in the genetic etiology of Belgian PD. |
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Language
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English
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Source (journal)
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Neurobiology of aging. - Fayetteville, N.Y.
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Publication
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Fayetteville, N.Y.
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2011
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ISSN
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0197-4580
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DOI
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10.1016/J.NEUROBIOLAGING.2009.02.016
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Volume/pages
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32
:2
(2011)
, p. 308-312
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ISI
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000285219600012
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Full text (Publisher's DOI)
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Full text (publisher's version - intranet only)
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