Structural Characterization of the Highly Restricted Down Syndrome Critical Region on 21q22.13: New KCNJ6 and DSCR4 Transcript Isoforms

Structural Characterization of the Highly Restricted Down Syndrome Critical Region on 21q22.13: New KCNJ6 and DSCR4 Transcript Isoforms

Down syndrome (DS) is caused by trisomy of chromosome 21 and it is the most common genetic cause of intellectual disability (ID) in humans. Subjects with DS show a typical phenotype marked by facial dysmorphisms and ID. Partial trisomy 21 (PT21) is a rare genotype characterized by the duplication of...

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Bibliographic Details
Main Authors: Francesca Antonaros, Margherita Pitocco, Domenico Abete, Beatrice Vione, Allison Piovesan, Lorenza Vitale, Pierluigi Strippoli, Maria Caracausi, Maria Chiara Pelleri
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-12-01
Series:Frontiers in Genetics
Subjects:
Down syndrome
trisomy 21 (Down syndrome)
HR-DSCR
KCNJ6
DSCR4
RNA isoforms
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.770359/full

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