Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features – a case reportReport as inadecuate

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features – a case report - Download this document for free, or read online. Document in PDF available to download.

BMC Medical Genetics

, 17:25

Clinical-Molecular Genetics and Cytogenetics


BackgroundMyosin heavy chain 7 related myopathies are rare disorders characterized by a wide phenotypic spectrum and heterogeneous pathological features. In the present study, we performed clinical, morphological, genetic and imaging investigations in three relatives affected by autosomal dominant distal myopathy. Whilst earlier traditional Sanger investigations had pointed to the wrong gene as disease causative, next-generation sequencing allowed us to obtain the definitive molecular genetic diagnosis in the family.

Case presentationThe proposita, being found to harbor a novel heterozygous mutation in the RYR1 gene p.Glu294Lys, was initially diagnosed with core myopathy. Subsequently, consideration of muscle magnetic resonance imaging MRI features and extension of family study led this diagnosis to be questioned. Use of next-generation sequencing analysis identified a novel mutation in the MYH7gene p.Ser1435Pro that segregated in the affected family members.

ConclusionsThis study identified a novel mutation in MYH7 in a family where the conclusive molecular diagnosis was reached through a complicated path. This case report might raise awareness, among clinicians, of the need to interpret NGS data in combination with muscle MRI patterns so as to facilitate the pinpointing of the main molecular etiology in inherited muscle disorders.

KeywordsCore myopathies MYH7 RYR1 Muscle MRI Next-generation sequencing AbbreviationsADAutosomal dominant

CFTDCongenital myopathy with features of fiber type disproportion

CKCreatine kinase


LDMLaing distal myopathy

MIMMendelian inheritance in man

MMCCongenital myopathy with features of multi-minicores

MRIMagnetic resonance imaging

NGSNext-generation sequencing

Electronic supplementary materialThe online version of this article doi:10.1186-s12881-016-0288-0 contains supplementary material, which is available to authorized users.

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Author: Guja Astrea - Antonio Petrucci - Denise Cassandrini - Marco Savarese - Rosanna Trovato - Ludovico Lispi - Anna Rubegni - Ma


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