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Article

Duplication of the STS region in males is a benign copy-number variant.

American journal of medical genetics. Part A - 1 Aug 2011

Furrow Aubry, Theisen Aaron, Velsher Lea, Bawle Erawati V, Sastry Sujatha, Mendelsohn Nancy J, Jarvis Kristi, Shaffer Lisa G, Chitayat David

Abstract excerpt

Copy-number variants (CNVs) are a common finding in the human genome, with copy gains occurring at a higher frequency than losses in several databases of genomic variants in normal individuals. Copy gains of the steroid sulfatase (STS) gene have been seen in both males and females. Although deletion of STS in males is known to cause X-linked ichthyosis, the clinical significance of STS copy gains is less clear,...

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Source

Identifiers

PMID: 21739574
DOI: 10.1002/ajmg.a.33985

Genes

STS

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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