Possible phenotypic consequences of structural differences in Idic(15) in a small cohort of patients

Márta Czakó, Ágnes Till, András Szabó, Réka Ripszám, B. Melegh, Kinga Hadzsiev

Research output: Contribution to journalArticle

Abstract

Among human supernumerary marker chromosomes, the occurrence of isodicentric form of 15 origin is relatively well known due to its high frequency, both in terms of gene content and associated clinical symptoms. The associated epilepsy and autism are typically more severe than in cases with interstitial 15q duplication, despite copy number gain of approximately the same genomic region. Other mechanisms besides segmental aneuploidy and epigenetic changes may also cause this difference. Among the factors influencing the expression of members of the GABAA gene cluster, the imprinting effect and copy number differences has been debated. Limited numbers of studies investigate factors influencing the interaction of GABAA cluster homologues. Five isodicentric (15) patients are reported with heterogeneous symptoms, and structural differences of their isodicentric chromosomes based on array comparative genomic hybridization results. Relations between the structure and the heterogeneous clinical picture are discussed, raising the possibility that the structure of the isodicentric (15), which has an asymmetric breakpoint and consequently a lower copy number segment, would be the basis of the imbalance of the GABAA homologues. Studies of trans interaction and regulation of GABAA cluster homologues are needed to resolve this issue, considering copy number differences within the isodicentric chromosome 15.

Original languageEnglish
Article number4935
JournalInternational journal of molecular sciences
Volume20
Issue number19
DOIs
Publication statusPublished - Oct 1 2019

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Keywords

  • Array CGH
  • Autism spectrum disorder
  • CHRNA7
  • Epilepsy
  • GABA gene cluster
  • Idic(15) syndrome
  • Supernumerary marker chromosome

ASJC Scopus subject areas

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

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