Mutation update for the NR5A1 gene involved in DSD and infertility

Nuclear receptor subfamily 5 group A member 1 (NR5A1), also named steroidogenic factor 1, is an essential transcription factor that regulates a number of target genes crucial for normal reproductive physiology and endocrine function. It is encoded by NR5A1 gene and is expressed in high doses mainly...

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Bibliographic Details
Published in:Human mutation 2020-01, Vol.41 (1), p.58-68
Main Authors: Fabbri‐Scallet, Helena, Sousa, Lizandra Maia, Maciel‐Guerra, Andréa Trevas, Guerra‐Júnior, Gil, Mello, Maricilda Palandi
Format: Article
Language:English
Subjects:
Adolescent
Alleles
Child
Child, Preschool
Databases, Genetic
Disorder of Sex Development, 46,XY - diagnosis
Disorder of Sex Development, 46,XY - genetics
Disorders of Sex Development - diagnosis
Disorders of Sex Development - genetics
DSD
Female
Genetic Association Studies - methods
Genetic Predisposition to Disease
Genotype
Genotypes
gonadal dysgenesis
Humans
Infant
Infant, Newborn
Infertility
Infertility - diagnosis
Infertility - genetics
Karyotype
Karyotypes
Male
Mutation
NR5A1 gene mutation
NR5A1 review
Phenotype
Phenotypes
Reproductive status
SF‐1
Steroidogenic factor 1
Steroidogenic Factor 1 - genetics
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Description
Summary:Nuclear receptor subfamily 5 group A member 1 (NR5A1), also named steroidogenic factor 1, is an essential transcription factor that regulates a number of target genes crucial for normal reproductive physiology and endocrine function. It is encoded by NR5A1 gene and is expressed in high doses mainly in steroidogenic tissues, where it controls several steps of adrenal and gonadal development. NR5A1 mutations are associated with a wide phenotypic spectrum of disorders/differences of sex development (DSD), a group of conditions in which development of chromosomal, gonadal, or anatomic sex is atypical. Here, we reviewed 188 NR5A1 mutations from 238 cases reported in literature so far. Additionally, we report the variations p.Ser4*, p.(Cys55Ser), p.(Met78Leu), and p.Met98Glyfs*45, which have not been annotated for NR5A1 before and were identified in some of the 205 46,XY patients of our own cohort. This is the first NR5A1 mutation review which includes both 46,XX and 46,XY karyotype, with the purpose of discussing the complexity of genotype–phenotype correlations among DSD and infertile male patients and also females with primary ovarian failure.
ISSN:1059-7794
1098-1004
DOI:10.1002/humu.23916