Mutation in the<i>SYNJ1</i>Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism

Quadri, Marialuisa; Fang, Mingyan; Picillo, Marina; Olgiati, Simone; J. Breedveld, Guido; Graafland, Josja; Wu, Bin; Xu, Fengping; Erro, Roberto; Amboni, Marianna; Pappatà, Sabina; Quarantelli, Mario; Annesi, Grazia; Quattrone, Aldo; Fen Chien, Hsin; Reis Barbosa, Egberto; International Parkinsonism Genetics Network, The; A. Oostra, Ben; Barone, Paolo; Wang, Jun; Bonifati, Vincenzo

doi:10.1002/humu.22373

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Mutation in theSYNJ1Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism

Published in Human Mutation • Jun 26, 2013

Authors:

Marialuisa Quadri

Mingyan Fang

Marina Picillo

Abstract

Autosomal recessive, early-onset Parkinsonism is clinically and genetically heterogeneous. Here, we report the identification, by homozygosity mapping and exome sequencing, of a SYNJ1 homozygous mutation (p.Arg258Gln) segregating with disease in an Italian consanguineous family with Parkinsonism, dy...

Subject

Parkinsonism

Biology

Exome sequencing

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