Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations

Molecular Cytogenetics

Wei-Wei Zhao¹ 

[1] Department of Molecular Pathology, KingMed Genome Diagnostic Laboratory, 2429 XinGangDong Road, Haizhu Science and Technology Building, Guangzhou 510330, China

关键词: Developmental delay;    Seizures;    Chromosomal microarray analysis (CMA);    RBFOX1;    Chromosome 16p13.3;    Microdeletion;   

Others  :  1150996
DOI  :  10.1186/1755-8166-6-26

 received in 2013-04-11, accepted in 2013-05-30,  发布年份 2013

【 摘 要 】

Background

RBFOX1 is an important splicing factor regulating developmental and tissue-specific alternative splicing in heart, muscle, and neuronal tissues. Constitutional genetic defects in RBFOX1 are implicated in multiple medical conditions.

Results

We identified 14 copy number variants (CNV) involving RBFOX1 from 2,124 consecutive pediatric patients referred for chromosomal microarray analysis (CMA), including 13 intragenic deletions and a single intragenic duplication. The clinical significances of the intragenic deletions of RBFOX1 were evaluated.

Conclusions

Our data strongly supports the associations of intragenic deletions of RBFOX1 with a diversity of neurodevelopmental and neuropsychiatric disorders, and possibly other clinical features.

【 授权许可】

   
2013 Zhao; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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