Adult expression of a 3q13.31 microdeletion

Molecular Cytogenetics

Anne S Bassett¹  Stephen W Scherer³  Christian R Marshall³  Anath C Lionel³  Dimitri J Stavropoulos²  Rebecca Melvin⁴  Gregory Costain⁴  Chelsea Lowther⁵ 

[1] Department of Psychiatry, University of Toronto, Toronto, ON, Canada;Department of Laboratory Medicine and Pathology, University of Toronto, Toronto, ON, Canada;Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, ON, Canada;Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada;Institute of Medical Science, University of Toronto, Toronto, ON, Canada

关键词: Nonverbal learning disability;    Genomic disorder;    Genetic counselling;    Genotype-phenotype correlation;    Copy number variation;    Schizophrenia;    3q13 deletion;   

Others  :  1150231
DOI  :  10.1186/1755-8166-7-23

 received in 2013-12-30, accepted in 2014-03-11,  发布年份 2014

【 摘 要 】

Background

The emerging 3q13.31 microdeletion syndrome appears to encompass diverse neurodevelopmental conditions. However, the 3q13.31 deletion is rare and few adult cases have yet been reported. We examined a cohort with schizophrenia (n = 459) and adult control subjects (n = 26,826) using high-resolution microarray technology for deletions and duplications at the 3q13.31 locus.

Results

We report on the extended adult phenotype associated with a 3q13.31 microdeletion in a 41-year-old male proband with schizophrenia and a nonverbal learning disability. He was noted to have a speech impairment, delayed motor skills, and other features consistent with the 3q13.31 microdeletion syndrome. The 2.06 Mb deletion overlapped two microRNAs and seven RefSeq genes, including GAP43, LSAMP, DRD3, and ZBTB20. No overlapping 3q13.31 deletions or duplications were identified in control subjects.

Conclusions

Later-onset conditions like schizophrenia are increasingly associated with rare copy number variations and associated genomic disorders like the 3q13.31 microdeletion syndrome. Detailed phenotype information across the lifespan facilitates genotype-phenotype correlations, accurate genetic counselling, and anticipatory care.

【 授权许可】

   
2014 Lowther et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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