Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?

Daniela Strunk,Benno Röthlisberger,Peter Weber,Isabel Filges

doi:10.1186/s13039-016-0299-8

Abstract

BackgroundCopy number variations play a significant role in the aetiology of developmental disabilities including non-syndromic intellectual disability and autism.Case presentationWe describe a 19-year old patient with intellectual disability and autism for whom chromosomal microarray (CMA) analysis showed the unusual finding of two de novo microdeletions in cis position on chromosome 6q16.1q16.2 and 6q16.3. The two deletions span 10 genes, including FBXL4, POU3F2, PRDM13, CCNC, COQ3 and GRIK2. We compared phenotypes of patients with similar deletions and looked at the involvement of the genes in neuronal networks in order to determine the pathogenicity of our patient’s deletions.ConclusionsWe suggest that both deletions on 6q are causing his disease phenotype since they harbour several genes which are implicated in pathways of neuronal development and function. Further studies regarding the interaction between PRDM13 and GRIK2 specifically may be interesting.

Highlights

Copy number variations play a significant role in the aetiology of developmental disabilities including non-syndromic intellectual disability and autism.Case presentation: We describe a 19-year old patient with intellectual disability and autism for whom chromosomal microarray (CMA) analysis showed the unusual finding of two de novo microdeletions in cis position on chromosome 6q16.1q16.2 and 6q16.3
Mutations in numerous genes have been linked to the aetiology of intellectual disability (ID) [1] and autism spectrum disorders (ASD)
We report on a patient with global developmental delay/intellectual disability (DD/ID) and autism for

Summary

Introduction

Copy number variations play a significant role in the aetiology of developmental disabilities including non-syndromic intellectual disability and autism.Case presentation: We describe a 19-year old patient with intellectual disability and autism for whom chromosomal microarray (CMA) analysis showed the unusual finding of two de novo microdeletions in cis position on chromosome 6q16.1q16.2 and 6q16.3. Copy number variations play a significant role in the aetiology of developmental disabilities including non-syndromic intellectual disability and autism. The two deletions span 10 genes, including FBXL4, POU3F2, PRDM13, CCNC, COQ3 and GRIK2. Copy number variations (CNV) play a significant role in the aetiology of developmental disabilities including non-syndromic intellectual impairment and/or autism [1,2,3], accounting for about 10–20% of non-syndromic patients [1, 4, 5]. Mutations in numerous genes have been linked to the aetiology of intellectual disability (ID) [1] and autism spectrum disorders (ASD). Interpretation of the clinical significance of CNVs and evaluation of their contribution to the phenotype remains challenging, CMAs are widely used for diagnostic purposes.

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