Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay

Emanuele G Coci*, Ornella Galesi, Thomas Morgan, Sabrina Giglio, Elsebet Ostergaard, Maurizio Elia

*Corresponding author af dette arbejde

Abstract

Neurodevelopmental syndromes due to copy number variation are well-known clinical entities. While the numerical variation of gene-harboring regions has been widely investigated at both molecular and clinical levels, much less is understood about unbalanced expression of long noncoding RNAs. Few studies have been performed on the clinical consequences of such unbalanced expression. Heterozygous deletions of NRXN1 have been well described to cause neuropsychological features. Heterozygous deletion of adjacent long noncoding RNA AK127244, either isolated or combined with partial NRXN1 deletion, was recently reported in association with neurodevelopmental delay. In our retrospective study, we analyze a bicentric cohort of 4 individuals, comprising 2 siblings, which bear an isolated heterozygous deletion in long noncoding RNA AK127244 and present with nonsyndromic neurodevelopmental delay.

OriginalsprogEngelsk
TidsskriftCytogenetic and Genome Research
Vol/bind162
Udgave nummer7
Sider (fra-til)365-371
Antal sider7
ISSN1424-8581
DOI
StatusUdgivet - 26 maj 2023

Fingeraftryk

Dyk ned i forskningsemnerne om 'Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay'. Sammen danner de et unikt fingeraftryk.

Citationsformater