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- Title
The Role of Copy Number Variants in Disorders of Sex Development.
- Authors
Croft, Brittany; Ohnesorg, Thomas; Sinclair, Andrew H.
- Abstract
Despite considerable research effort and significant advances in sequencing technologies, the majority of disorders of sex development (DSD) cases still lack a molecular genetic diagnosis. While coding variants have been discovered in known and candidate DSD genes, comparatively little is known about copy number variations (CNVs) affecting both coding and noncoding regions. Due to rapidly falling costs of whole genome sequencing, many more CNVs in individuals with DSD will be identified. These CNVs may explain a significant number of hitherto undiagnosed cases of DSD. In this review, we provide an overview of CNVs that are known to cause DSD and discuss approaches to identify and verify causative CNVs.
- Subjects
SEX differentiation disorders; MOLECULAR genetics; MOLECULAR diagnosis; GENETIC sex determination; NUCLEOTIDE sequencing
- Publication
Sexual Development, 2018, Vol 12, Issue 1-3, p19
- ISSN
1661-5425
- Publication type
Article
- DOI
10.1159/000481896