Publications by authors named "Mohammad Farid Mohammadi"
Article Synopsis
- Developmental and epileptic encephalopathy type 25 (DEE25) is a rare genetic disorder caused by mutations in the SLC13A5 gene, leading to issues like energy production disruption and developmental delays in the brain.
- Symptoms typically include refractory seizures in early life, global developmental delays, microcephaly, and dental issues linked to amelogenesis imperfecta.
- Recent findings in two affected siblings revealed significant brain changes on MRI, such as hypomyelination and white matter loss, highlighting the disorder's clinical variability even among siblings with the same genetic mutations.
Congenital myasthenic syndromes-5 (CMS5) is a rare autosomal recessive heterogeneous disorder, caused by pathogenic variants in the that lead to skeletal muscle weakness and abnormal fatigability. The onset is usually from birth to childhood. Disease-causing variants in the collagen-like tail subunit are the most explained etiology in synaptic CMS, causing defected acetylcholinesterase.
View Article and Find Full Text PDFBackground: Aminoacylase-1 deficiency (ACY1D) is an autosomal recessive rare inborn error of metabolism, which is caused by disease-causing variants in the ACY1. This disorder is characterized by increased urinary excretion of specific N-acetyl amino acids. Affected individuals demonstrate heterogeneous clinical manifestations which are primarily neurologic problems.
View Article and Find Full Text PDFGuanidinoacetate methyltransferase deficiency (GAMTD) is a treatable neurodevelopmental disorder with normal or nonspecific imaging findings. Here, we reported a 14-month-old girl with GAMTD and novel findings on brain magnetic resonance imaging (MRI).A 14-month-old female patient was referred to Myelin Disorders Clinic due to onset of seizures and developmental regression following routine vaccination at 4 months of age.
View Article and Find Full Text PDFThis manuscript aimed to determine the underlying point mutations causing Duchenne muscular dystrophy (DMD) in a heterogeneous group of Iranian patients, who are clinically suspected. Whole-exome sequencing was utilized to detect disease-causing variants in 40 MLPA-negative DMD patients. Disease-causing variants were detected in the DMD gene in 36/40 of the patients (90%), and 4/40 of them (10%) remained undiagnosed.
View Article and Find Full Text PDFArticle Synopsis
- 3MC syndrome type 3 is a rare autosomal recessive disorder linked to mutations in the COLEC10 gene and presents various symptoms such as facial abnormalities, growth issues, and cognitive impairment.
- A study was conducted using whole-exome sequencing on a 7-year-old Iranian girl with multiple concerning traits to identify the genetic variant responsible for her condition.
- The researchers found a new homozygous frameshift deletion in the COLEC10 gene, marking the fourth reported case of this syndrome associated with COLEC10 mutations, and emphasized the need for further research to uncover additional genetic factors related to 3MC syndrome.