Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.

Meriam Hadj AmorSarra DimassiAmel TajWafa SlimaniHanene HannachiAdnene MlikaKhaled Ben HelelAli SaadSoumaya Mougou-Zerelli

Published in: BMC medical genetics (2020)

17p13.3 and 3p26 deletions have a clear range of phenotypic features while duplications still have an uncertain clinical significance. However, we could suggest that regardless of the type of the rearrangement, the gene dosage and interactions of CNTN4, CNTN6 and CHL1 in the 3p26 and PAFAH1B1, YWHAE in 17p13.3 could result in different clinical spectrums.

Keyphrases

genome wide
genome wide identification
genome wide analysis
copy number
early onset
dna methylation
transcription factor
gene expression
cerebral ischemia
brain injury