Publications by authors named "Ahmed Ezz Elarab"
Article Synopsis
- The study aimed to better understand severe serine biosynthesis defects by examining prenatal and postnatal effects in 12 unrelated Egyptian families with suspected Neu-Laxova syndrome (NLS).
- Researchers employed fetal ultrasound, postnatal assessments, and whole exome sequencing (WES) to analyze this new cohort and reviewed existing literature for a broader context.
- Findings included novel clinical signs and the identification of several genetic variants, expanding the understanding of serine biosynthesis disorders and highlighting the importance of prenatal exome sequencing.
Kinase D-interacting substrate of 220 kDa (KIDINS220) is a transmembrane protein playing integral role in growth mediating pathways in the nervous and cardiovascular systems. KIDINS220 heterozygous truncating variants that affect the protein's C-terminus have been associated with a phenotype, so far described only in few unrelated children, including spastic paraplegia, intellectual disability, nystagmus, and obesity. More recently, a homozygous, more N-terminal truncating variant in KIDINS220 gene was suggested to be associated with enlarged cerebral ventricles and limb contractures in three fetuses from a consanguineous family.
View Article and Find Full Text PDFObjective: The objective of this study is to evaluate the prenatal diagnosis, postnatal characteristics, and the spectrum of associated findings in fetuses with holoprosencephaly (HPE).
Methods: Fetal neurosonograms, postnatal assessment, and chromosomal analysis were performed in a cohort of 25 fetuses with HPE.
Results: The prevalence of HPE in high-risk pregnancies was 4.