TY - JOUR
T1 - Second report of SHMT2 related neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
AU - Majethia, Purvi
AU - Bhat, Vivekananda
AU - Yatheesha, B. L.
AU - Siddiqui, Shahyan
AU - Shukla, Anju
N1 - Funding Information:
We thank the patient and their family for participating in the study. We also thank National Institutes of Health , USA for funding the project titled ‘Genetic Diagnosis of Neurodevelopmental Disorders in India’ ( 1R01HD093570-01A1 ).
Publisher Copyright:
© 2022
PY - 2022/6
Y1 - 2022/6
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85127920570&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85127920570&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2022.104481
DO - 10.1016/j.ejmg.2022.104481
M3 - Article
AN - SCOPUS:85127920570
SN - 1769-7212
VL - 65
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 6
M1 - 104481
ER -