Cytogenetic and Genome Research

Coci E.G.a,f· Galesi O.b· Morgan T.c· Giglio S.d· Ostergaard E.e,f· Elia M.b

Author affiliations

aDepartment of Pediatrics, Prignitz Hospital, Brandenburg Medical School, Prignitz, Germany
bOasi Research Institute - IRCCS, Troina, Italy
cVanderbilt University School of Medicine, Nashville, TN, USA
dUniversity of Cagliari, Cagliari, Italy
eDepartment of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
fDepartment of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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Article / Publication Details

First-Page Preview

Received: June 04, 2022
Accepted: November 29, 2022
Published online: February 09, 2023

Number of Print Pages: 7
Number of Figures: 1
Number of Tables: 1

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: https://www.karger.com/CGR

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.

© 2023 S. Karger AG, Basel

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First-Page Preview

Received: June 04, 2022
Accepted: November 29, 2022
Published online: February 09, 2023

Number of Print Pages: 7
Number of Figures: 1
Number of Tables: 1

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: https://www.karger.com/CGR

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