Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.

doi:10.1371/journal.pgen.1002325

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Article

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.

PLoS genetics - 1 Oct 2011

Pierson Tyler Mark, Adams David, Bonn Florian, Martinelli Paola, Cherukuri Praveen F, Teer Jamie K, Hansen Nancy F, Cruz Pedro, Mullikin For The Nisc Comparative Sequencing Program James C, Blakesley Robert W, Golas Gretchen, Kwan Justin, Sandler Anthony, Fuentes Fajardo Karin, Markello Thomas, Tifft Cynthia, Blackstone Craig, Rugarli Elena I, Langer Thomas, Gahl William A, Toro Camilo

Abstract excerpt

We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. Whole-exome sequencing identified a homozygous missense mutation (c.1847G>A; p.Y616C) in AFG3L2, encoding a subunit of an m-AAA protease....

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PMID: 22022284
DOI: 10.1371/journal.pgen.1002325
PMCID: PMC3192828

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SPG7

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