A rare 3q13.31 microdeletion including GAP43 and LSAMP genes
Stefania Gimelli, Massimiliano Leoni, Maja Di Rocco
1Laboratorio di Citogenetica, Istituto G, Gaslini, Genoa, Italy. eli.tassano@gmail.com.
Molecular Cytogenetics
|November 28, 2013
Summary
Rare interstitial deletions of chromosome 3q13.31, involving the GAP43 and LSAMP genes, are linked to neuropsychiatric and developmental disorders. Haploinsufficiency of these genes is proposed as the cause of the observed phenotype.
Area of Science:
- Genetics
- Neuroscience
- Developmental Biology
Background:
- Interstitial deletions of chromosome 3q are rare and challenging for genotype-phenotype correlation due to variable breakpoints.
- Previous reports include a 1.9-Mb deletion of 3q13.2q13.31 and 14 cases with 3q11q23 deletions.
Observation:
- A 7-year-old girl presented with neuropsychiatric, renal, vascular, and skeletal anomalies.
- Array comparative genomic hybridization (CGH) identified a rare inherited 3q13.31 microdeletion encompassing the GAP43 and LSAMP genes.
Findings:
- Mutation analysis of GAP43 and LSAMP on the non-deleted chromosome was negative.
- GAP43 is vital for nervous system regeneration and synaptogenesis.
- LSAMP is a neuronal adhesion molecule involved in limbic system development and neuronal connection guidance.
Implications:
- Haploinsufficiency of GAP43 and LSAMP is proposed to cause the observed clinical phenotype.
- Further diagnoses of similar microdeletions are expected to refine the understanding of 3q13.31 microdeletion phenotypes.
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