Clinical Phenotypes Associated to Engrailed 2 Gene Alterations in a Series of Neuropediatric Patients

Frontiers in Neuroanatomy
Francisco Carratala-MarcoSalvador Martinez

Abstract

The engrailed homeobox protein (EN) plays an important role in the regionalization of the neural tube. EN distribution regulates the cerebellum and midbrain morphogenesis, as well as retinotectal synaptogenesis. In humans, the EN1 and EN2 genes code for the EN family of transcription factors. Genetic alterations in the expression of EN2 have been related to different neurologic conditions and more particularly to autism spectrum disorders (ASD). We aimed to study and compare the phenotypes of three series of patients: (1) patients with encephalic structural anomalies (ESA) and abnormalities in the genomic (DNA) and/or transcriptomic (RNAm) of EN2 (EN2-g), (2) ESA patients having other gene mutations (OG-g), and (3) ESA patients free of these mutations (NM-g). Subjects and Methods: We have performed a descriptive study on 109 patients who suffer from mental retardation (MR), cerebral palsy (CP), epilepsy (EP), and behavioral disorders (BD), showing also ESA in their encephalic MRI. We studied genomic DNA and transcriptional analysis (cDNA) on EN2 gene (EN2), and in other genes (OG): LIS1, PTAFR, PAFAH1B2, PAFAH1B3, FGF8, PAX2, D17S379, D17S1866, and SMG6 (D17S5), as a routine genetic diagnosis in ESA patients. Results: From 109 ...Continue Reading

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Citations

Nov 20, 2019·Autism Research : Official Journal of the International Society for Autism Research·Weicheng DuanBo Xiong
Oct 23, 2019·Frontiers in Cellular Neuroscience·Jason S Gill, Roy V Sillitoe
Apr 15, 2021·Developmental Neurobiology·Madel DurensEmanuel DiCicco-Bloom
Jun 27, 2021·Pharmacology & Therapeutics·Maria Adamaki, Vassilios Zoumpourlis

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Methods Mentioned

BETA
RNAseq
PCR
electrophoresis
biopsy
cesarean section
NMR

Software Mentioned

Primer
QIAxcel
BLAST
RNAseq
Primer3

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