New mutation of ar gene in patients with androgen insensitivity syndrome
Main Article Content
Abstract
Androgen insensitivity syndrome (AIS) is one of the most common genetic conditions, which affects a child’s sexual development before birth and during puberty. People with this syndrome are genetically male but are born with all or some of the physical traits of a female. The AR gene test is an accurate method of determining the cause of the AIS. In this study, we used Sanger sequencing to identify mutations in AR gene. AIS’s patient with a female phenotype and his mother were subjects in the study. As a result, we found a completely new mutation c.2246C>T (p.Ala749Val) on exon 5 of the AR gene, which had not been reported in NCBI. The patient's mutation in the hemizygous form was inherited from the patient's mother in the heterozygous form. The patient should be oriented to its proper gender. This study provides a new mutation of AR gene in Vietnamese patients to further identify the genetic cause and contribute to the clinical management and genetics counseling in prenatal for the affected family.
Article Details
Keywords
Androgen Insensitivity Syndrome, AR gene, Disordes of sex development
References
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