Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
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ABSTRACT:
SUBMITTER: Mayr JA
PROVIDER: S-EPMC3276657 | biostudies-literature | 2012 Feb
REPOSITORIES: biostudies-literature
Publications
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
Mayr Johannes A JA Haack Tobias B TB Graf Elisabeth E Zimmermann Franz A FA Wieland Thomas T Haberberger Birgit B Superti-Furga Andrea A Kirschner Janbernd J Steinmann Beat B Baumgartner Matthias R MR Moroni Isabella I Lamantea Eleonora E Zeviani Massimo M Rodenburg Richard J RJ Smeitink Jan J Strom Tim M TM Meitinger Thomas T Sperl Wolfgang W Prokisch Holger H
American journal of human genetics 20120126 2
Exome sequencing of an individual with congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis, all typical symptoms of Sengers syndrome, discovered two nonsense mutations in the gene encoding mitochondrial acylglycerol kinase (AGK). Mutation screening of AGK in further individuals with congenital cataracts and cardiomyopathy identified numerous loss-of-function mutations in an additional eight families, confirming the causal nature of AGK deficiency in Sengers ...[more]
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