A novel pathogenic MYH3 mutation in a child with Sheldon –Hall syndrome and vertebral fusions

We report the case of a boy with a novel pathogenic MYH3 mutation, presenting with the classical clinical features of SHS in association with unilateral carpal bone fusion and multiple vertebral fusions. This distinctive phenotype has never been reported in the literature so far and expands the phenotypic spectrum of SHS, endorsing the clinical variability of patients with MYH3‐related disorders. Our findings also support a role for MYH3 in both muscle and bone development, suggesting a phenotypic continuum in MYH3‐related disorders.

Source: American Journal of Medical Genetics Part A - January 1, 2018 Category: Genetics & Stem Cells Authors: Marcello Scala, Andrea Accogli, Elisa De Grandis, Anna Allegri, Christoph P. Bagowski, Moneef Shoukier, Mohamad Maghnie, Valeria Capra Tags: CLINICAL REPORT Source Type: research