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Phenotype Heterogeneity in 3q29 Microduplication Syndrome

Ioana Streata1,2, Anca-Lelia Riza1,2, Simona Sosoi1,2

  • 1Human Genomics Laboratory, University of Medicine and Pharmacy of Craiova, Romania.

Current Health Sciences Journal
|September 3, 2020
PubMed

Insights

This study details a rare 3q29 microduplication syndrome case in a 34-year-old woman, presenting with mild intellectual disability and recurrent infections. The findings highlight the syndrome

Area of Science:

  • Genetics
  • Neuroscience
  • Immunology

Background:

  • 3q29 microduplication syndrome typically presents with variable, often mild, clinical features.
  • Commonly observed features include developmental delay, intellectual disability, and congenital abnormalities, but a distinct pattern is elusive.

Purpose of the Study:

  • To report a unique case of 3q29 microduplication syndrome with late onset.
  • To investigate the genetic underpinnings of the observed clinical manifestations.

Main Methods:

  • Array comparative genomic hybridization (aCGH) was used to identify a 1.65Mb duplication at 3q29.
  • Clinical data from a 34-year-old female patient was analyzed.

Main Results:

  • A 1.65Mb duplication at 3q29 was identified in a 34-year-old woman with mild intellectual disability, progressive cortical atrophy, and recurrent mucosal candidiasis.
  • The duplicated region contains 29 genes, including PAK2, DLG1, BDH1, FBXO45, and TFRC, implicated in neuronal development and synaptic function.
  • The gene RNF168 is a potential candidate for the observed immunodeficiency.

Conclusions:

  • This case expands the phenotypic spectrum of 3q29 microduplication syndrome, particularly regarding late onset and immunodeficiency.
  • Further research is necessary to elucidate the complex pathophysiological mechanisms underlying this rare genetic disorder.
Keywords:
3q29 microduplicationImmunodeficiencyRNF168 geneaCGHfronto-temporal dementia

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