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A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum.

Justyna FrasunskaAgnieszka PollakPawel TurczynAnna Kutkowska-KaźmierczakJakub PepłowskiPloski RafalBeata Tarnacka
Published in: Genes (2024)
A disease associated with malfunction of the MYH3 gene is characterised by scoliosis, contractures of the V fingers, knees and elbows, dysplasia of the calf muscles, foot deformity and limb length asymmetry. The aim of this study was to identify the cause of musculoskeletal deformities in a three-generation Polish family by exome sequencing. The segregation of the newly described c.866A>C variant of the MYH3 gene in the family indicates an autosomal dominant model of inheritance. The detected MYH3 variant segregates the disease within the family. The presented results expand the MYH3 disease spectrum and emphasize the clinical diagnostic challenge in syndromes harbouring congenital spine defects and joint contractures.
Keyphrases
  • hypertrophic cardiomyopathy
  • copy number
  • heart failure
  • genome wide
  • left ventricular
  • mitochondrial dna
  • dna methylation
  • atrial fibrillation
  • genome wide identification
  • anterior cruciate ligament