Journal article
A new locus for X-linked dominant charcot-marie-tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene
ML Kennerson, EM Yiu, DT Chuang, A Kidambi, SC Tso, C Ly, R Chaudhry, AP Drew, G Rance, MB Delatycki, S Züchner, MM Ryan, GA Nicholson
Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2013
DOI: 10.1093/hmg/dds557
Abstract
Hereditary motor and sensory disorders of the peripheral nerve form one of the most common groups of human genetic diseases collectively called Charcot-Marie-Tooth (CMT) neuropathy. Using linkage analysis in a three generation kindred, we have mapped a new locus for X-linked dominant CMT to chromosome Xp22.11. A microsatellite scan of the X chromosome established significant linkage to several markers including DXS993 (Zmax = 3.16; θ = 0.05). Extended haplotype analysis refined the linkage region to a 1.43-Mb interval flanked by markers DXS7110 and DXS8027. Whole exome sequencing identified a missense mutation c.G473A (p.R158H) in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. Th..
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Awarded by National Institutes of Health
Funding Acknowledgements
This work is supported by the National Health and Medical Research Council (NHMRC) Project Grant APP1007705 awarded to G.A.N. and M.L.K. E.M.Y. is supported by a NHMRC Biomedical Postgraduate Research Scholarship. M.M.R. receives grant support from NHMRC under The Centres of Research Excellence scheme (APP1031893). The Murdoch Childrens Research Institute is supported by the Victorian Government's Operational Infrastructure Support Program. D.T.C. is supported by the National Institutes of Health Grants DK62306, DK26758 and DK92921, and the Welch Foundation Grant I-1286.