Methenyltetrahydrofolate synthease deficiency (MTHFS deficiency): Novel mutation and brain MRI findings: A case report and glance to other cases

• Published in: Clinical neurology and neurosurgery Vol. 215; p. 107153
• Main Authors: Vafaee-Shahi, Mohammad, Amirkashani, Davoud, Ashrafi, Mahmoud Reza, Tahernia, Leila, Riahi, Aina
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.04.2022; Elsevier Limited
• Subjects: Age; Anemia; Atrophy; Brain - diagnostic imaging; Case reports; Consent; Enzymes; Epilepsy; Genetic; Homocysteine; Humans; Laboratories; Magnetic Resonance Imaging; Metabolism; Microcephaly; Microcephaly - diagnostic imaging; Microcephaly - genetics; MTHFS; Mutation; Mutation - genetics; Nervous System Malformations; Neuroimaging; Neurology; Patients; Pediatrics; Spasticity; Tetrahydrofolic acid; Vitamin B; Vitamin deficiency; WES; Haiti; Genetic; MTHFS; WES; Microcephaly
• ISSN: 0303-8467; 1872-6968
• DOI: 10.1016/j.clineuro.2022.107153

This is a case report of Methenyl Tetrahydrofolate synthetase deficiency (MTHFS deficiency) characterized by global developmental delay, cerebral hypomyelination, severe spastic tonicity in extremities, and microcephaly. Mutation in the MTHFS gene was reported in the Whole Exome Sequencing (WES) and confirmed with Sanger sequencing of parents. It is of great significance to report since it would be the first case of MTHFS mutation reported from Iran and the fourth throughout the world with novel mutation and brain imaging. •WES reveals: MTHFS NM-006441: exone1: C.18-27 del: p. v6fs homozygous mutation in cytogenetic location 15q25.1.•Sanger Sequencing reveal that Both parents and one sibling were heterozygote.•Disease vector for mutated allele and another sibling was not affected by mutated allele.