A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum-Reference-Cited by-同舟云学术

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

Published:2024-01-19 Issue:1 Volume:15 Page:125
ISSN:2073-4425
Container-title:Genes
language:en
Short-container-title:Genes

Author:

Frasuńska Justyna¹^ORCID,Pollak Agnieszka²^ORCID,Turczyn Paweł³^ORCID,Kutkowska-Kaźmierczak Anna⁴^ORCID,Pepłowski Jakub⁵,Płoski Rafał²^ORCID,Tarnacka Beata¹^ORCID

Affiliation:

1. Department of Rehabilitation, Medical University of Warsaw, 02-091 Warsaw, Poland

2. Department of Medical Genetics, Medical University of Warsaw, 02-091 Warsaw, Poland

3. Clinic of Early Arthritis, National Institute of Geriatrics, Rheumatology and Rehabilitation, 02-637 Warsaw, Poland

4. Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland

5. The Rare Diseases Laboratory, Laboratory of Genetics, University Center for Laboratory Medicine, University Clinical Centre of the Medical University of Warsaw, 02-097 Warsaw, Poland

Abstract

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.

Publisher

MDPI AG

Link

https://www.mdpi.com/2073-4425/15/1/125/pdf

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