A rare 3q13.31 microdeletion including GAP43 and LSAMP genes

Stefania Gimelli, Massimiliano Leoni, Maja Di Rocco, Gianluca Caridi, Simona Porta, Cristina Cuoco, Giorgio Gimelli, Elisa Tassano

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Interstitial deletions affecting the proximal long arm of chromosome 3 have been rarely reported in the literature. The deleted segments vary in localization and size with different breakpoints making genotype-phenotype correlation very difficult. Until now, a girl with a 1.9-Mb interstitial deletion of 3q13.2q13.31 and 14 novel patients with deletions in 3q11q23 have been reported. Results: Here we report on a 7-year-old girl with neuropsychiatric disorders and renal, vascular and skeletal anomalies. Array-CGH analysis revealed a small rare inherited 3q13.31 deletion containing only two genes, GAP43 and LSAMP. The mutation analysis of the two genes was negative on the other non-deleted chromosome. GAP43 is considered a crucial component for an effective regenerative response in the nervous system and its mRNA is localized exclusively to nerve tissue where the protein is linked to the synaptosomal membrane. LSAMP is a 64- to 68-kD neuronal surface glycoprotein found in cortical and subcortical regions of the limbic system that acts as an adhesion molecule and guides the development of specific patterns of neuronal connection. The deleted region is adjacent to a "desert gene" region extending 2.099 Mb. Conclusions: We discuss the effects of GAP43 and LSAMP haploinsufficiency, proposing that their deletion may be responsible for the main phenotype. Further cases with similar microdeletion are expected to be diagnosed and will help to better characterize the clinical spectrum of phenotypes associated with 3q13.31 microdeletion.

Original languageEnglish
Article number52
JournalMolecular Cytogenetics
Volume6
Issue number1
DOIs
Publication statusPublished - Nov 26 2013

Keywords

  • 3q31.31microdeletion
  • GAP43 gene
  • Genotype-phenotype correlation
  • LSAMP gene

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Genetics(clinical)
  • Biochemistry
  • Molecular Medicine
  • Biochemistry, medical

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