Second report of SHMT2 related neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Document Type
Article
Publication Title
European Journal of Medical Genetics
Abstract
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB; MIM# 619121) is a recently described metabolic disorder with characteristic features of mild dysmorphism, intellectual disability, spasticity, peripheral neuropathy, cardiomyopathy, and thin corpus callosum. Biallelic variants in SHMT2 (MIM 138450), encoding mitochondrial serine hydroxymethyltransferase enzyme, have been recently linked to this disorder. Till now, a total of seven variants including six missense and one deletion-insertion has been reported in SHMT2. We hereby report an additional individual with novel homozygous missense variant c.1133A > G in SHMT2 (NM_005412.6) identified by exome sequencing and review the phenotype and genotype of the previously reported individuals with NEDCASB.
DOI
10.1016/j.ejmg.2022.104481
Publication Date
6-1-2022
Recommended Citation
Majethia, Purvi; Bhat, Vivekananda; Yatheesha, B. L.; and Siddiqui, Shahyan, "Second report of SHMT2 related neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities" (2022). Open Access archive. 4271.
https://impressions.manipal.edu/open-access-archive/4271
