Small copy-number variations involving genes of the FGF pathway in differences in sex development

Andrew Hagan; Ina E. Amarillo

doi:10.1038/hgv.2017.11

Small copy-number variations involving genes of the FGF pathway in differences in sex development

Andrew Hagan, Ina E. Amarillo

Department of Pathology and Laboratory Medicine

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

Retrospective chromosome microarray analysis of 83 genes within the fibroblast growth factor signaling pathway in 52 patients with heterogeneous differences in sex development (DSD) revealed small copy-number variations (CNVs) in ∼31% (n=26) of investigated genes. Roughly half of these genes (39/83) are ≥50 kb. This study highlights the potential involvement of small CNVs in disrupting normal gene function and dysregulating genes of the FGF pathway associated with DSD.

Original language	English (US)
Article number	17011
Journal	Human Genome Variation
Volume	4
DOIs	https://doi.org/10.1038/hgv.2017.11
State	Published - Apr 13 2017

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Genetics

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10.1038/hgv.2017.11

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abstract = "Retrospective chromosome microarray analysis of 83 genes within the fibroblast growth factor signaling pathway in 52 patients with heterogeneous differences in sex development (DSD) revealed small copy-number variations (CNVs) in ∼31% (n=26) of investigated genes. Roughly half of these genes (39/83) are ≥50 kb. This study highlights the potential involvement of small CNVs in disrupting normal gene function and dysregulating genes of the FGF pathway associated with DSD.",

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Small copy-number variations involving genes of the FGF pathway in differences in sex development

Abstract

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