Abstract
BackgroundVariants in the Structural Maintenance of Chromosomes flexible Hinge Domain-containing protein 1 (SMCHD1) can cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) and the unrelated Bosma arhinia microphthalmia syndrome (BAMS). In...
Highlights
Generation sequencing (NGS) has revolutionised the diagnostic workup of genetic diseases.[1]
The facioscapulohumeral muscular dystrophy type 2 (FSHD2) mutation spectrum includes all types of variants covering the entire SMCHD1 locus, missense variants are significantly enriched in the extended ATPase domain
We included SMCHD1 variants identified from independent studies, based on having an facioscapulohumeral muscular dystrophy (FSHD) phenotype and D4Z4 methylation below the FSHD2 threshold
Summary
Generation sequencing (NGS) has revolutionised the diagnostic workup of genetic diseases.[1]. That is, disorders caused by defective chromatin modifiers, functional readouts may be readily available in the DNA itself through the appearance of aberrant epigenetic signatures. One such epigenetic disorder is facioscapulohumeral muscular dystrophy (FSHD), a myopathy with a prevalence of 1:8.500, clinically characterised by progressive and often asymmetric weakness and atrophy of the facial and upper extremity muscles.[3,4,5,6] FSHD is caused by the misexpression of DUX4, a retrogene encoding for a germline and cleavage stage transcription factor.[78]. We compared FSHD2, BAMS and non-pathogenic SMCHD1 variants to derive genotype–phenotype relationships
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
