The Role of Copy Number Variants in Disorders of Sex Development

Brittany Croft; Thomas Ohnesorg; Andrew H. Sinclair

doi:10.1159/000481896

The Role of Copy Number Variants in Disorders of Sex Development

Brittany Croft
, Thomas Ohnesorg
, Andrew H. Sinclair

Hudson Institute - Department of Molecular and Translational Science

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

49 Citations (Scopus)

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.

Original language	English
Pages (from-to)	19-29
Number of pages	11
Journal	Sexual Development
Volume	12
Issue number	1-3
DOIs	https://doi.org/10.1159/000481896
Publication status	Published - 1 Feb 2018

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

ArrayCGH
Noncoding region
Regulatory elements
SOX9
Whole genome sequencing

Access to Document

10.1159/000481896

Cite this

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title = "The Role of Copy Number Variants in Disorders of Sex Development",

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.",

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T1 - The Role of Copy Number Variants in Disorders of Sex Development

AU - Croft, Brittany

AU - Ohnesorg, Thomas

AU - Sinclair, Andrew H.

PY - 2018/2/1

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N2 - 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.

AB - 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.

KW - ArrayCGH

KW - Noncoding region

KW - Regulatory elements

KW - SOX9

KW - Whole genome sequencing

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DO - 10.1159/000481896

M3 - Review Article

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SN - 1661-5425

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SP - 19

EP - 29

JO - Sexual Development

JF - Sexual Development

IS - 1-3

ER -

The Role of Copy Number Variants in Disorders of Sex Development

Abstract

UN SDGs

Keywords

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Other files and links

Disorders of Sex Development: Genetics, diagnosis, Informing Clinical Care

Cite this

The Role of Copy Number Variants in Disorders of Sex Development

Abstract

UN SDGs

Keywords

Access to Document

Other files and links

Projects

Disorders of Sex Development: Genetics, diagnosis, Informing Clinical Care

Cite this