Preimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam.
Level 4 - case-series / case-control
Clinical case report of a single family and embryo.
PubMed 38737445 · doi:10.2147/TACG.S457634
What was done
Researchers developed a preimplantation genetic diagnosis (PGD) protocol combining Sanger sequencing and short tandem repeat (STR) linkage analysis for a couple with a prior son affected by androgen insensitivity syndrome (AIS). Testing was conducted on parental blood, the affected son's DNA, and a single day-5 biopsied embryo based on initial next-generation sequencing findings.
What was found
A novel pathogenic frameshift variant in the AR gene was identified: NM_000044: c.796del (p.Asp266IlefsTer30). PGD on 1 embryo confirmed it was free of the mutation.
Why it matters
This report identifies a novel AR variant in Vietnam and confirms that combined direct sequencing and STR linkage can be utilized for preimplantation diagnostic workflows in monogenic AIS.
Limits
The study is restricted to a single family and a single embryo (n = 1). Clinical pregnancy, implantation rates, diagnostic error margins, and live-birth outcomes were not reported in the abstract.
Cited by
- supports The gene encoding the androgen receptor is located on the X chromosome.