New Mutation in Androgen Receptor Linked to Androgen Insensitivity Syndrome in Brazilian Family
Author Information
Author(s): Petroli Reginaldo J, Maciel-Guerra Andréa T, Soardi Fernanda C, de Calais Flávia L, Guerra-Junior Gil, de Mello Maricilda Palandi
Primary Institution: Universidade de Campinas (UNICAMP)
Hypothesis
The study aims to identify the AR gene mutation in a Brazilian family with partial androgen insensitivity syndrome.
Conclusion
The novel p.L830F mutation is responsible for grades 5 and 6 of partial androgen insensitivity syndrome in two generations of a Brazilian family.
Supporting Evidence
- The mutation was identified in five 46,XY female hemizygote individuals and two heterozygote carrier mothers.
- The study provides important information for the function of a specific amino acid residue in the androgen receptor.
- The presence of the mutation was linked to different grades of partial androgen insensitivity syndrome in family members.
Takeaway
This study found a new mutation in a gene that affects how the body responds to male hormones, which can cause problems with sexual development.
Methodology
The study sequenced the coding exons and exon-intron junctions of the androgen receptor gene in seven family members.
Participant Demographics
The study included five 46,XY females and two healthy mothers from a Brazilian family.
Digital Object Identifier (DOI)
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