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Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen
Laura Pranckėnienė1, Žana Bumbulienė2, Darius Dasevičius3
1Faculty of Medicine, Department of Human and Medical Genetics, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Background:
Androgen receptor (AR) mutations, which cause androgen insensitivity syndrome, impair the actions of 5α-dihydrotestosterone and testosterone, resulting in abnormal sexual development. In most cases, genetic aberrations of the AR are caused by substitutions, but also can result from mutations in splicing regions and deletions in the AR gene.
Case:
Our present report describes a female patient with 46,XY karyotype and normal female external genitalia. A novel de novo c.1669_1670insC insertion in the AR gene caused androgen insensitivity syndrome.
Summary And Conclusion:
This report provides a detailed clinical characterization of the patient and a possible pathogenic mechanism leading to androgen insensitivity syndrome and should be particularly useful in genetic counseling.
Insights
A novel androgen receptor (AR) gene mutation caused androgen insensitivity syndrome in a 46,XY female patient. This finding aids in understanding genetic disorders and counseling.
Area of Science:
- Genetics
- Endocrinology
- Molecular Biology
Background:
- Androgen receptor (AR) mutations lead to androgen insensitivity syndrome, affecting sexual development by impairing testosterone and 5α-dihydrotestosterone actions.
- Genetic aberrations in the AR gene typically involve substitutions, splicing mutations, or deletions.
Observation:
- A 46,XY patient presented with normal female external genitalia and symptoms of androgen insensitivity syndrome.
- A novel de novo c.1669_1670insC insertion mutation was identified in the patient's AR gene.
Findings:
- The identified AR gene insertion mutation is the cause of androgen insensitivity syndrome in this patient.
- This mutation likely disrupts AR function, leading to the observed clinical phenotype.
Implications:
- This case provides a detailed clinical characterization of a rare AR mutation.
- Understanding the pathogenic mechanism is crucial for accurate genetic counseling and diagnosis of androgen insensitivity syndrome.
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