Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation

MS Hildebrand; VE Jackson; TS Scerri; O Van Reyk; M Coleman; RO Braden; S Turner; KA Rigbye; A Boys; S Barton; R Webster; M Fahey; K Saunders; B Parry-Fielder; G Paxton; M Hayman; D Coman; H Goel; A Baxter; A Ma; N Davis; S Reilly; M Delatycki; FJ Liégeois; A Connelly; J Gecz; SE Fisher; DJ Amor; IE Scheffer; M Bahlo; AT Morgan

Journal article

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation

MS Hildebrand, VE Jackson, TS Scerri, O Van Reyk, M Coleman, RO Braden, S Turner, KA Rigbye, A Boys, S Barton, R Webster, M Fahey, K Saunders, B Parry-Fielder, G Paxton, M Hayman, D Coman, H Goel, A Baxter, A Ma Show all

Neurology | Published : 2020

DOI: 10.1212/WNL.0000000000009441

Abstract

ObjectiveDetermining the genetic basis of speech disorders provides insight into the neurobiology of human communication. Despite intensive investigation over the past 2 decades, the etiology of most speech disorders in children remains unexplained. To test the hypothesis that speech disorders have a genetic etiology, we performed genetic analysis of children with severe speech disorder, specifically childhood apraxia of speech (CAS).MethodsPrecise phenotyping together with research genome or exome analysis were performed on children referred with a primary diagnosis of CAS. Gene coexpression and gene set enrichment analyses were conducted on high-confidence gene candidates.ResultsThirty-fou..

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University of Melbourne Researchers

Michael Hildebrand Author

Vicki Jackson Author

Matt Coleman Author

Georgia Paxton Author

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Grants

Awarded by March of Dimes Foundation

Funding Acknowledgements

M.S.H., F.J.L., S.E.F., A.C., S.R., D.J.A., I.E.S., M.B., and A.T.M. are funded by a National Health and Medical Research Council (NHMRC) Centre of Research Excellence Grant (1116976). M.S.H., F.J.L., A.C., I.E.S., M.B., and A.T.M. are supported by an Australian Research Council (ARC) Discovery Project (DP120100285). M.S.H., F.J.L., S.E.F., S.R., D.J.A., and A.T.M. are funded by an NHMRC Project Grant (1127144). M.S.H., A.T.M., I.E.S., and M.B. are supported by the March of Dimes Grant Scheme. M.S.H. is funded by an NHMRC Career Development Fellowship (ID: 1063799). S.E.F. is funded by the Max Planck Society. I.E.S. is funded by an NHMRC Development Grant (1153614) and a Practitioner Fellowship (1006110). M.B. is funded by an NHMRC Senior Research Fellowship (ID: 1102971). A.T.M. is funded by an NHMRC Development Grant (1153614) and a Practitioner Fellowship (1105008).