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Duplication of the STS region in males is a benign copy‐number variant
Author(s) -
Furrow Aubry,
Theisen Aaron,
Velsher Lea,
Bawle Erawati V.,
Sastry Sujatha,
Mendelsohn Nancy J.,
Jarvis Kristi,
Shaffer Lisa G.,
Chitayat David
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33985
Subject(s) - gene duplication , copy number variation , steroid sulfatase , comparative genomic hybridization , biology , segmental duplication , genetics , population , gene , genome , medicine , gene family , steroid , biochemistry , environmental health , hormone
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, with the duplication reported in individuals with abnormal phenotypes and normal relatives. We identified 72 males submitted to our laboratory for microarray‐based comparative genomic hybridization with duplications in the STS region (chrX:6,465,812–8,093,195). In 40 (56%) patients, maternal blood was available, and the duplication was found to be inherited from the patient's apparently phenotypically normal mother in each of the 40 patients. We also identified three females who inherited a duplication of the STS region from phenotypically normal fathers, and a phenotypically normal uncle who had the same duplication as his nephews. In the remaining cases the inheritance could not be confirmed owing to lack of parental samples available for testing. Of the 72 subjects, 10 (14%) had an additional CNV elsewhere in the genome known to be clinically significant and likely causative of the patient's presenting symptoms. Based on the frequency with which duplications have been identified in clinically normal and abnormal individuals, we suggest a gain of STS in males is a population variant and unlikely to be clinically significant. © 2011 Wiley‐Liss, Inc.