A rare 3q13.31 microdeletion including GAP43 and LSAMP genes
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CASE REPORT
Open Access
A rare 3q13.31 microdeletion including GAP43 and LSAMP genes Stefania Gimelli1, Massimiliano Leoni2, Maja Di Rocco2, Gianluca Caridi3, Simona Porta4, Cristina Cuoco4, Giorgio Gimelli4 and Elisa Tassano4*
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. Keywords: 3q31.31microdeletion, GAP43 gene, LSAMP gene, Genotype-phenotype correlation
Background Interstitial deletions of the proximal long arm of chromosome 3 are quite rare. In addition, the deleted segments vary in localization and size and have different breakpoints, making genotype-phenotype correlation very difficult. A girl with a 1.9-Mb interstitial deletion of 3q13.2q13.31 presenting with dysmorphic features, muscle hypotonia, and developmental delay was reported [1]. More recently, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patients [2]. The reported deleted segments were very different in length, spanning from 580 Kb to 22.4 Mb and covering the region 3q12.3q21.3. The same authors indicate, among others, GAP43 and LSAMP as strong candidate genes for developmental delay. GAP43 is involved in neurite * Correspondence: [email protected] 4 Laboratorio di Citogenetica, Istituto G. Gaslini, Genoa, Italy Full list of author information is available at the end of the article
outgrowth, neurotransmission, and synaptic plasticity. It has been recently identified as a candidate gene for autism and autistic-like manifestations in humans and mice [3-5]. LSAMP gene gives rise to LAMP
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