Journal article
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
APL Marsh, V Lukic, K Pope, C Bromhead, R Tankard, MM Ryan, EM Yiu, JCH Sim, MB Delatycki, DJ Amor, G McGillivray, EH Sherr, M Bahlo, RJ Leventer, PJ Lockhart
Neurology Genetics | Published : 2015
Abstract
Objective: To determine the molecular basis of a severe neurologic disorder in a large consanguineous family with complete agenesis of the corpus callosum (ACC), pontocerebellar hypoplasia (PCH), and peripheral axonal neuropathy. Methods: Assessment included clinical evaluation, neuroimaging, and nerve conduction studies (NCSs). Linkage analysis used genotypes from 7 family members, and the exome of 3 affected siblings was sequenced. Molecular analyses used Sanger sequencing to perform segregation studies and cohort analysis and Western blot of patient-derived cells. Results: Affected family members presented with postnatal microcephaly and profound developmental delay, with early death in 3..
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Awarded by National Science Foundation
Funding Acknowledgements
This work was funded in part by National Health and Medical Research Council (NHMRC) Australia Program Grant 490037 to D.J.A. and M.B. and NHMRC Project Grant APP1059666 to P.J.L., RJ.L., D.J.A., and M.B.D. A.P.L.M. and R.T. were supported by an Australian Postgraduate Award. P.J.L. was supported by an NHMRC Career Development Fellowship (APPI032364). E.M.Y. was supported by an NHMRC Early Career Fellow-ship (APP1023323). M.M.R. was supported by NHMRC CRE grant APP1031893. M.B. was supported by an Australian Research Council Future Fellowship (FT100100764). This work was made possible through Victorian State Government Operational Infrastructure Support and Australian Government NHMRC IRIIS.