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

Autor: Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, India., Bhat V; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, India., Yatheesha BL; Paediatric Neurology, Dheemahi Child Neurology and Development Center, Shimogga, India., Siddiqui S; Department of Neuroimaging and Interventional Radiology, STAR Institute of Neurosciences, STAR Hospitals, Hyderabad, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, India. Electronic address: anju.shukla@manipal.edu.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2022 Jun; Vol. 65 (6), pp. 104481. Date of Electronic Publication: 2022 Apr 06.
DOI: 10.1016/j.ejmg.2022.104481
Abstrakt: 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.
(Copyright © 2022 Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE
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