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

doi:10.1186/1755-8166-6-26

. 2013 Jul 3;6(1):26.

doi: 10.1186/1755-8166-6-26.

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

Wei-Wei Zhao¹

Affiliations

Affiliation

¹ Department of Molecular Pathology, KingMed Genome Diagnostic Laboratory, 2429 XinGangDong Road, Haizhu Science and Technology Building, Guangzhou 510330, China. lab-zhaoweiwei@kingmed.com.cn.

PMID: 23822903
PMCID: PMC3766065
DOI: 10.1186/1755-8166-6-26

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

Wei-Wei Zhao. Mol Cytogenet. 2013.

. 2013 Jul 3;6(1):26.

doi: 10.1186/1755-8166-6-26.

Author

Wei-Wei Zhao¹

Affiliation

¹ Department of Molecular Pathology, KingMed Genome Diagnostic Laboratory, 2429 XinGangDong Road, Haizhu Science and Technology Building, Guangzhou 510330, China. lab-zhaoweiwei@kingmed.com.cn.

PMID: 23822903
PMCID: PMC3766065
DOI: 10.1186/1755-8166-6-26

Abstract

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.

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Figures

**Figure 1**
**Genomic overview of the intragenic deletions** **(patients 1–13)** **and duplication of** ***RBFOX1*** **(patient 14)** **in this study.**

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References

1. Auweter SD, Fasan R, Reymond L, Underwood JG, Black DL, Pitsch S, Allain FH. Molecular basis of RNA recognition by the human alternative splicing factor Fox-1. EMBO J. 2006;25(1):163–173. doi: 10.1038/sj.emboj.7600918. - DOI - PMC - PubMed
1. Kiehl TR, Shibata H, Pulst SM. The ortholog of human ataxin-2 is essential for early embryonic patterning in C. elegans. J Mol Neurosci. 2000;15(3):231–241. doi: 10.1385/JMN:15:3:231. - DOI - PubMed
1. Jin Y, Suzuki H, Maegawa S, Endo H, Sugano S, Hashimoto K, Yasuda K, Inoue K. A vertebrate RNA-binding protein Fox-1 regulates tissue-specific splicing via the pentanucleotide GCAUG. EMBO J. 2003;22(4):905–912. doi: 10.1093/emboj/cdg089. - DOI - PMC - PubMed
1. Underwood JG, Boutz PL, Dougherty JD, Stoilov P, Black DL. Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals. Mol Cell Biol. 2005;25(22):10005–10016. doi: 10.1128/MCB.25.22.10005-10016.2005. - DOI - PMC - PubMed
1. Nakahata S, Kawamoto S. Tissue-dependent isoforms of mammalian Fox-1 homologs are associated with tissue-specific splicing activities. Nucleic Acids Res. 2005;33(7):2078–2089. doi: 10.1093/nar/gki338. - DOI - PMC - PubMed

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[1] Auweter SD, Fasan R, Reymond L, Underwood JG, Black DL, Pitsch S, Allain FH. Molecular basis of RNA recognition by the human alternative splicing factor Fox-1. EMBO J. 2006;25(1):163–173. doi: 10.1038/sj.emboj.7600918. - DOI - PMC - PubMed

[2] Auweter SD, Fasan R, Reymond L, Underwood JG, Black DL, Pitsch S, Allain FH. Molecular basis of RNA recognition by the human alternative splicing factor Fox-1. EMBO J. 2006;25(1):163–173. doi: 10.1038/sj.emboj.7600918. - DOI - PMC - PubMed

[3] Kiehl TR, Shibata H, Pulst SM. The ortholog of human ataxin-2 is essential for early embryonic patterning in C. elegans. J Mol Neurosci. 2000;15(3):231–241. doi: 10.1385/JMN:15:3:231. - DOI - PubMed

[4] Kiehl TR, Shibata H, Pulst SM. The ortholog of human ataxin-2 is essential for early embryonic patterning in C. elegans. J Mol Neurosci. 2000;15(3):231–241. doi: 10.1385/JMN:15:3:231. - DOI - PubMed

[5] Jin Y, Suzuki H, Maegawa S, Endo H, Sugano S, Hashimoto K, Yasuda K, Inoue K. A vertebrate RNA-binding protein Fox-1 regulates tissue-specific splicing via the pentanucleotide GCAUG. EMBO J. 2003;22(4):905–912. doi: 10.1093/emboj/cdg089. - DOI - PMC - PubMed

[6] Jin Y, Suzuki H, Maegawa S, Endo H, Sugano S, Hashimoto K, Yasuda K, Inoue K. A vertebrate RNA-binding protein Fox-1 regulates tissue-specific splicing via the pentanucleotide GCAUG. EMBO J. 2003;22(4):905–912. doi: 10.1093/emboj/cdg089. - DOI - PMC - PubMed

[7] Underwood JG, Boutz PL, Dougherty JD, Stoilov P, Black DL. Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals. Mol Cell Biol. 2005;25(22):10005–10016. doi: 10.1128/MCB.25.22.10005-10016.2005. - DOI - PMC - PubMed

[8] Underwood JG, Boutz PL, Dougherty JD, Stoilov P, Black DL. Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals. Mol Cell Biol. 2005;25(22):10005–10016. doi: 10.1128/MCB.25.22.10005-10016.2005. - DOI - PMC - PubMed

[9] Nakahata S, Kawamoto S. Tissue-dependent isoforms of mammalian Fox-1 homologs are associated with tissue-specific splicing activities. Nucleic Acids Res. 2005;33(7):2078–2089. doi: 10.1093/nar/gki338. - DOI - PMC - PubMed

[10] Nakahata S, Kawamoto S. Tissue-dependent isoforms of mammalian Fox-1 homologs are associated with tissue-specific splicing activities. Nucleic Acids Res. 2005;33(7):2078–2089. doi: 10.1093/nar/gki338. - DOI - PMC - PubMed

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

Affiliation

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

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Abstract

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