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Genetic analysis of 46,XY disorders of sex development in children caused by a new NR5A1 gene variant / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 1123-1126, 2021.
Article in Chinese | WPRIM | ID: wpr-922011
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child with 46,XY disorders of sex development (DSD) and explore its genotype-phenotype correlation.@*METHODS@#The child was subjected to whole exome sequencing (WES), and exons 1 to 7 of NR5A1 were subjected to multiplex ligation-dependent probe amplification (MLPA) analysis.@*RESULTS@#The patient presented with rudimentary vulva of a female with Tanner stage 1. B-mode ultrasonography has detected ovary and uterus. The child was found to have a chromosome karyotype of 46,XY. WES revealed that the patient has harbored heterozygous deletion of exon 5 of the NR5A1 gene, which was a novel pathogenic variant inherited from the mother. No abnormality was found in the father.@*CONCLUSION@#The main symptoms of 46,XY DSD children are insufficient external genitalia masculinization, for which variants of the NR5A1 gene are an important cause. WES has improved the detection rate of genetic variants and provided a solid basis for genetic counseling of the affected families.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Disorders of Sex Development / Genetic Testing / Exons / Steroidogenic Factor 1 / Disorder of Sex Development, 46,XY / Heterozygote / Mutation Type of study: Prognostic study Limits: Child / Female / Humans Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Disorders of Sex Development / Genetic Testing / Exons / Steroidogenic Factor 1 / Disorder of Sex Development, 46,XY / Heterozygote / Mutation Type of study: Prognostic study Limits: Child / Female / Humans Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article