Translating genomics to the clinical diagnosis of disorders/differences of sex development.
Disorders/differences of sex development
Exome sequencing
Genetic diagnosis
Long-read sequencing
Next-generation sequencing
Optical genome mapping
Sexual development
Structural variants
Whole genome sequencing
Journal
Current topics in developmental biology
ISSN: 1557-8933
Titre abrégé: Curr Top Dev Biol
Pays: United States
ID NLM: 0163114
Informations de publication
Date de publication:
2019
2019
Historique:
entrez:
20
4
2019
pubmed:
20
4
2019
medline:
28
5
2020
Statut:
ppublish
Résumé
The medical and psychosocial challenges faced by patients living with Disorders/Differences of Sex Development (DSD) and their families can be alleviated by a rapid and accurate diagnostic process. Clinical diagnosis of DSD is limited by a lack of standardization of anatomical and endocrine phenotyping and genetic testing, as well as poor genotype/phenotype correlation. Historically, DSD genes have been identified through positional cloning of disease-associated variants segregating in families and validation of candidates in animal and in vitro modeling of variant pathogenicity. Owing to the complexity of conditions grouped under DSD, genome-wide scanning methods are better suited for identifying disease causing gene variant(s) and providing a clinical diagnosis. Here, we review a number of established genomic tools (karyotyping, chromosomal microarrays and exome sequencing) used in clinic for DSD diagnosis, as well as emerging genomic technologies such as whole-genome (short-read) sequencing, long-read sequencing, and optical mapping used for novel DSD gene discovery. These, together with gene expression and epigenetic studies can potentiate the clinical diagnosis of DSD diagnostic rates and enhance the outcomes for patients and families.
Identifiants
pubmed: 30999980
pii: S0070-2153(19)30005-5
doi: 10.1016/bs.ctdb.2019.01.005
pmc: PMC7382024
mid: NIHMS1601313
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
317-375Subventions
Organisme : NICHD NIH HHS
ID : U54 HD090257
Pays : United States
Informations de copyright
© 2019 Elsevier Inc. All rights reserved.
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