Article
A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review.
Molecular genetics & genomic medicine - 1 Nov 2024
Esmaeilzadeh Emran, Biglari Sajjad, Mosallaei Meysam, Khorshid Hamid Reza Khorram, Vahidnezhad Hassan, Tabatabaiefar Mohammad Amin
Abstract excerpt
OBJECTIVE: Mammalian Diaphanous-Related Formin (mDia1), which is encoded by the DIAPH1 gene, serves as essential for the regulation of cell morphology and cytoskeletal organization. The role of DIAPH1 in brain development has been extensively established. This study aims to evaluate the clinical, neuroradiological, and genetic characteristics of patients with DIAPH1-related disease and determine probable...
Topics
- Humans
- Male
- Formins
- Child
- Homozygote
- Microcephaly
- Seizures
- Blindness, Cortical
- Syndrome
- Pedigree
- Phenotype