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Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores

Content Provider	Springer Nature Link
Author	Boyden, Steven E. Mahoney, Lane J. Kawahara, Genri Myers, Jennifer A. Mitsuhashi, Satomi Estrella, Elicia A. Duncan, Anna R. Dey, Friederike DeChene, Elizabeth T. Blasko Goehringer, Jessica M. Bönnemann, Carsten G. Darras, Basil T. Mendell, Jerry R. Lidov, Hart G. W. Nishi, Ichizo Beggs, Alan H. Kunkel, Louis M. Kang, Peter B.
Copyright Year	2012
Abstract	We ascertained a nuclear family in which three of four siblings were affected with an unclassified autosomal recessive myopathy characterized by severe weakness, respiratory impairment, scoliosis, joint contractures, and an unusual combination of dystrophic and myopathic features on muscle biopsy. Whole genome sequence from one affected subject was filtered using linkage data and variant databases. A single gene, MEGF10, contained nonsynonymous mutations that co-segregated with the phenotype. Affected subjects were compound heterozygous for missense mutations c.976T > C (p.C326R) and c.2320T > C (p.C774R). Screening the MEGF10 open reading frame in 190 patients with genetically unexplained myopathies revealed a heterozygous mutation, c.211C > T (p.R71W), in one additional subject with a similar clinical and histological presentation as the discovery family. All three mutations were absent from at least 645 genotyped unaffected control subjects. MEGF10 contains 17 atypical epidermal growth factor-like domains, each of which contains eight cysteine residues that likely form disulfide bonds. Both the p.C326R and p.C774R mutations alter one of these residues, which are completely conserved in vertebrates. Previous work showed that murine Megf10 is required for preserving the undifferentiated, proliferative potential of satellite cells, myogenic precursors that regenerate skeletal muscle in response to injury or disease. Here, knockdown of megf10 in zebrafish by four different morpholinos resulted in abnormal phenotypes including unhatched eggs, curved tails, impaired motility, and disorganized muscle tissue, corroborating the pathogenicity of the human mutations. Our data establish the importance of MEGF10 in human skeletal muscle and suggest satellite cell dysfunction as a novel myopathic mechanism.
Starting Page	115
Ending Page	124
Page Count	10
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	13
Issue Number	2
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2012-02-28
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	MEGF10 Whole genome sequencing Linkage analysis Congenital myopathy Satellite cells Cleft palate Molecular Medicine Neurosciences Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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