Angelman syndrome and angelman-like syndromes share the same calcium-related gene signatures

Julia Panov, Hanoch Kaphzan

Research output: Contribution to journalArticlepeer-review


Angelman-like syndromes are a group of neurodevelopmental disorders that entail clinical presentation similar to Angelman Syndrome (AS). In our previous study, we showed that calcium signaling is disrupted in AS, and we identified calcium-target and calcium-regulating gene signatures that are able to differentiate between AS and their controls in different models. In the herein study, we evaluated these sets of calcium-target and calcium-regulating genes as signatures of AS-like and non-AS-like syndromes. We collected a number of RNA-seq datasets of various AS-like and non-AS-like syndromes and performed Principle Component Analysis (PCA) separately on the two sets of signature genes to visualize the distribution of samples on the PC1–PC2 plane. In addition to the evaluation of calcium signature genes, we performed differential gene expression analyses to identify calcium-related genes dysregulated in each of the studied syndromes. These analyses showed that the calcium-target and calcium-regulating signatures differentiate well between AS-like syndromes and their controls. However, in spite of the fact that many of the non-AS-like syndromes have multiple differentially expressed calcium-related genes, the calcium signatures were not efficient classifiers for non-AS-like neurodevelopmental disorders. These results show that features based on clinical presentation are reflected in signatures derived from bioinformatics analyses and suggest the use of bioinformatics as a tool for classification.

Original languageEnglish
Article number9870
Number of pages26
JournalInternational Journal of Molecular Sciences
Issue number18
StatePublished - 13 Sep 2021

Bibliographical note

Funding Information:
Funding: This work was supported by the Israel Science Foundation, Grant Number 248/20 (HK), and by the Angelman Syndrome Foundation (HK).

Publisher Copyright:
© 2021 by the authors. Licensee MDPI, Basel, Switzerland.


  • Angelman syndrome
  • Angelman-like syndromes
  • Calcium signaling
  • Calcium-regulating genes
  • Calcium-target genes
  • RNA sequencing
  • Transcriptome

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Spectroscopy
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry


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