Journal article

Expanding the phenotypic spectrum associated with mutations of DYNC1H1

Sarah J Beecroft, Catriona A McLean, Martin B Delatycki, Kurian Koshy, Eppie Yiu, Goknur Haliloglu, Diclehan Orhan, Phillipa J Lamont, Mark R Davis, Nigel G Laing, Gianina Ravenscroft



Autosomal dominant mutations of DYNC1H1 cause a range of neurogenetic diseases, including mental retardation with cortical malformations, hereditary spastic paraplegia and spinal muscular atrophy. Using SNP array, linkage analysis and next generation sequencing, we identified two families and one isolated proband sharing a known spinal muscular atrophy, lower extremity predominant (SMALED) causing mutation DYNC1H1 c.1792C>T, p.Arg598Cys, and another family harbouring a c.2327C>T, p.Pro776Leu mutation. Here, we present a detailed clinical and pathological examination of these patients, and show that patients with DYNC1H1 mutations may present with a phenotype mimicking a congenital myopathy. ..

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Awarded by Australian NHMRC

Awarded by AFM

Awarded by NHMRC

Funding Acknowledgements

We would like to thank the patients and families for their involvement in this study. SJB is supported by The Fred Liuzzi Foundation (Australia). NGL (APP1117510) and GR (APP1122952) are supported by the Australian NHMRC. GR is also supported by Department of Health Future Health WA Merit Awards. This work is funded by TFLF, AFM (18724), and NHMRC (APP1080587). The funding agencies had no involvement in the design, completion or writing of this study.