Corrigendum: Corrigendum for: Disorders of sex development: The evolving role of genomics in diagnosis and gene discovery, 108:337–350 (10.1002/bdrc.21148)

Abstract

Disorders of Sex Development (DSDs) are a major paediatric concern and are estimated to occur in around 1.7% of all live births (Fausto‐Sterling, Sexing the Body: Gender Politics and the Construction of Sexuality, Basic Books, New York, 2000). They are often caused by the breakdown in the complex genetic mechanisms that underlie gonadal development and differentiation. Having a genetic diagnosis can be important for patients with a DSD: it can increase acceptance of a disorder often surrounded by stigma, alter clinical management and it can assist in reproductive planning. While Massively Parallel Sequencing (MPS) is advancing the genetic diagnosis of rare Mendelian disorders, it is not yet clear which MPS assay is best suited for the clinical diagnosis of DSD patients and to what extent other established methods are still relevant. To complicate matters, DSDs represent a wide spectrum of disorders caused by an array of different genetic changes, many of which are yet unknown. Here we discuss the different genetic lesions that are known to contribute to different DSDs, and review the utility of a range of MPS approaches for diagnosing DSD patients. Birth Defects Research (Part C) 108:337–350, 2016. © 2016 Wiley Periodicals, Inc.

Characterization of a Homozygous Deletion of Steroid Hormone Biosynthesis Genes in Horse Chromosome 29 as a Risk Factor for Disorders of Sex Development and Reproduction

“…Though, in some forms of XY DSDs, such as cryptorchidism and hypospadias, the genetic and gonadal/phenotypic sex are in concordance [8]. The prevalence of DSDs in humans is approximately 1.7% of all live births [7,9], whereas the frequency of non-syndromic cryptorchidism alone can be as high as 8% among full-term male births depending on the geographical area [8,10].…”

The Role of Copy Number Variants in Disorders of Sex Development

“…CGH arrays require targeted oligonucleotide probes to specific regions whereby the copy number of the test sample is compared to a control sample. These probes can either be spread out evenly over the entire genome at lower resolution or targeted towards specific regions of interest at higher resolution allowing fine mapping of chromosomal rearrangements [Bashamboo et al, 2010;Croft et al, 2016]. The resolution of both array types is limited by the probe density; however, probe coverage and density has improved greatly over the years.…”

The evolving role of whole-exome sequencing in the management of disorders of sex development

“…Today, high-throughput sequencing (HTS) panels of genes involved in sex determination and differentiation are available. More than 60 genes have been described in association with DSD ( 6 , 7 ). The recent availability of whole-exome sequencing (WES), mainly for research purposes, has led to improved accuracy of diagnosis of DSD patients, identifying causal variants in more than 50% of cases, as well as novel genes causing DSD ( 8 ).…”