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Genotype-phenotype relationships in Freeman-Sheldon syndrome.

Anita E Beck¹, Margaret J McMillin, Heidi I S Gildersleeve

¹Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington; Seattle Children's Hospital, Seattle, Washington.

American Journal of Medical Genetics. Part A

|September 27, 2014

Summary

Distal arthrogryposis type 2A (DA2A), a severe congenital disorder, shows significant genotype-phenotype variability. Specific MYH3 mutations correlate with disease severity, enabling personalized management for Freeman-Sheldon syndrome patients.

Keywords:

arthrogryposis clubfoot congenital foot deformities congenital hand deformities congenital limb deformities congenital lower extremity deformities congenital upper extremity deformities contracture distal arthrogryposis distal arthrogryposis type 2A human MYH3 polypeptide muscle musculoskeletal abnormalities myosin heavy chains skeletal muscle

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Area of Science:

Genetics and Molecular Biology
Developmental Biology
Clinical Genetics

Background:

Distal arthrogryposis (DA) syndromes are congenital disorders characterized by multiple joint contractures.
DA type 2A (DA2A), also known as Freeman-Sheldon syndrome, is the most severe DA form, linked to MYH3 gene mutations.
Significant variability in clinical presentation exists among DA2A patients.

Purpose of the Study:

To investigate genotype-phenotype correlations in Distal arthrogryposis type 2A.
To identify specific MYH3 mutations associated with varying disease severity in DA2A.
To explore the potential for genotype-guided personalized medical management in DA2A.

Main Methods:

Genomic analysis of MYH3 mutations in 46 families affected by DA2A.
Clinical phenotyping of affected individuals to assess contracture severity and associated features.
Statistical analysis to determine the relationship between specific genotypes and phenotypic severity.

Main Results:

MYH3 mutations were identified in 93% of the studied families.
Three specific MYH3 mutations (p.T178I, p.R672C, p.R672H) accounted for 91% of identified mutations.
A significant correlation (P=0.0055) was observed between genotype and phenotypic severity, with p.T178I linked to the most severe outcomes, including facial contractures and congenital scoliosis.

Conclusions:

Genotype-phenotype relationships in DA2A are significant, with specific MYH3 mutations predicting disease severity.
The p.T178I mutation is associated with the most severe DA2A phenotype.
Stratifying DA2A patients into severity groups based on MYH3 genotype can improve natural history predictions and guide personalized treatment strategies.