Second report of SHMT2 related neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities

Purvi Majethia, Vivekananda Bhat, B. L. Yatheesha, Shahyan Siddiqui, Anju Shukla

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article number104481
JournalEuropean Journal of Medical Genetics
Volume65
Issue number6
DOIs
Publication statusPublished - 06-2022

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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