A private 16q24.2q24.3 microduplication in a boy with intellectual disability, speech delay and mild dysmorphic features

Research output: Contribution to journalArticlepeer-review

Abstract

No data on interstitial microduplications of the 16q24.2q24.3 chromosome region are available in the medical literature and remain extraordinarily rare in public databases. Here, we describe a boy with a de novo 16q24.2q24.3 microduplication at the Single Nucleotide Polymorphism (SNP)-array analysis spanning ~2.2 Mb and encompassing 38 genes. The patient showed mild-to-moderate intellectual disability, speech delay and mild dysmorphic features. In DECIPHER, we found six individuals carrying a “pure” overlapping microduplication. Although available data are very limited, genomic and phenotype comparison of our and previously annotated patients suggested a potential clinical relevance for 16q24.2q24.3 microduplication with a variable and not (yet) recognizable phenotype predominantly affecting cognition. Comparing the cytogenomic data of available individuals allowed us to delineate the smallest region of overlap involving 14 genes. Accordingly, we propose ANKRD11, CDH15, and CTU2 as candidate genes for explaining the related neurodevelopmental manifestations shared by these patients. To the best of our knowledge, this is the first time that a clinical and molecular comparison among patients with overlapping 16q24.2q24.3 microduplication has been done. This study broadens our knowledge of the phenotypic consequences of 16q24.2q24.3 microduplication, providing supporting evidence of an emerging syndrome.

Original languageEnglish
Article number707
Pages (from-to)1-9
Number of pages9
JournalGenes
Volume11
Issue number6
DOIs
Publication statusPublished - Jun 2020

Keywords

  • 16q24.2q24.3 microduplication
  • Emerging syndrome
  • High resolution SNP-Array analysis
  • Neurodevelopmental disorders

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint

Dive into the research topics of 'A private 16q24.2q24.3 microduplication in a boy with intellectual disability, speech delay and mild dysmorphic features'. Together they form a unique fingerprint.

Cite this