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Article

The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.

Human mutation - 1 Sept 2013

Krebs Catharine E, Karkheiran Siamak, Powell James C, Cao Mian, Makarov Vladimir, Darvish Hossein, Di Paolo Gilbert, Walker Ruth H, Shahidi Gholam Ali, Buxbaum Joseph D, De Camilli Pietro, Yue Zhenyu, Paisán-Ruiz Coro

Abstract excerpt

This study aimed to elucidate the genetic causes underlying early-onset Parkinsonism (EOP) in a consanguineous Iranian family. To attain this, homozygosity mapping and whole-exome sequencing were performed. As a result, a homozygous mutation (c.773G>A; p.Arg258Gln) lying within the NH2 -terminal Sac1-like inositol phosphatase domain of polyphosphoinositide phosphatase synaptojanin 1 (SYNJ1), which has been...

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Open in PubMed Open full text

Identifiers

PMID: 23804563
DOI: 10.1002/humu.22372
PMCID: PMC3790461

Genes

SYNJ1

Variants

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