The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.

doi:10.1186/s13024-015-0045-4

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Article

The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.

Molecular neurodegeneration - 24 Sept 2015

Mata Ignacio F, Jang Yongwoo, Kim Chun-Hyung, Hanna David S, Dorschner Michael O, Samii Ali, Agarwal Pinky, Roberts John W, Klepitskaya Olga, Shprecher David R, Chung Kathryn A, Factor Stewart A, Espay Alberto J, Revilla Fredy J, Higgins Donald S, Litvan Irene, Leverenz James B, Yearout Dora, Inca-Martinez Miguel, Martinez Erica, Thompson Tiffany R, Cholerton Brenna A, Hu Shu-Ching, Edwards Karen L, Kim Kwang-Soo, Zabetian Cyrus P

Abstract excerpt

OBJECTIVE: To identify the causal gene in a multi-incident U.S. kindred with Parkinson's disease (PD). METHODS: We characterized a family with a classical PD phenotype in which 7 individuals (5 males and 2 females) were affected with a mean age at onset of 46.1 years (range, 29-57 years). We performed whole exome sequencing on 4 affected and 1 unaffected family members. Sanger-sequencing was then used to verify...

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PMID: 26399558
DOI: 10.1186/s13024-015-0045-4
PMCID: PMC4581468

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