Related Experiment Video

Updated: Feb 2, 2026

Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

7.8K

Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations

Yanning Song1, Lijun Fan1, Chunxiu Gong1,2

  • 1Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Frontiers in Pharmacology
|November 15, 2018
PubMed

Insights

This study investigated NR5A1 gene mutations in 30 Chinese patients, revealing a wide spectrum of phenotypes and severe Sertoli cell impairment in 46, XY individuals. Common mutations like p.R87C and p.R313C were identified, along with 14 novel mutations.

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Mutations in the NR5A1 gene are associated with diverse clinical presentations.
  • Understanding genotype-phenotype correlations is crucial for managing patients with NR5A1-related disorders.

Purpose of the Study:

  • To investigate the clinical phenotype of 30 Chinese patients with NR5A1 gene mutations.
  • To compare clinical features between male and female patients with NR5A1 mutations.
  • To identify common and novel NR5A1 mutations and analyze genotype-phenotype correlations.

Main Methods:

  • Clinical data from 30 pediatric patients with NR5A1 mutations were analyzed.
  • Patients were categorized into male and female groups for comparative analysis.
  • Genotyping, ultrasound, and hormonal level assessments (LH, FSH, testosterone, INHB) were performed.

Main Results:

  • Thirty patients (11 boys, 19 girls) aged 2 months to 17 years were studied, all with testes but without uterus/ovaries.
  • Higher testes position observed in girls (p=0.013); no significant difference in Prader stage (p=0.086).
  • Girls showed decreased basal FSH (p=0.002), LH/FSH ratio (p=0.001), and INHB (p=0.006).
  • 80% of mutations were de novo; 14 novel mutations identified, with p.R87C and p.R313C being common.

Conclusions:

  • 46, XY individuals with NR5A1 mutations exhibit a broad range of external genitalia characteristics and significant Sertoli cell dysfunction.
  • The study identified common (p.R87C, p.R313C) and novel NR5A1 mutations, enhancing understanding of genotype-phenotype relationships.
  • NR5A1 mutations present a complex spectrum of disorders requiring comprehensive clinical and genetic evaluation.

Keywords:
NR5A1 mutationnovel mutationphenotype and genotypeprader gradesteroli cell

More Related Videos

Exploring Caspase Mutations and Post-Translational Modification by Molecular Modeling Approaches05:56

Exploring Caspase Mutations and Post-Translational Modification by Molecular Modeling Approaches

Published on: October 13, 2022

1.8K
Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction10:41

Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction

Published on: May 12, 2016

8.6K

Related Concept Videos

Mutations01:39

Mutations

Overview
94.5K
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
44.5K
Viral Mutations00:36

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
39.9K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
64.3K
Mutations in Microorganisms01:18

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
728
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
1.2K