Successful birth of an unaffected baby after in-vitro fertilization treatment with preimplantation screening for monogenic diseases in a couple with Darier-White disease (ATP2A2 gene mutation). Clinical case report

Abstract

Introduction: Darier-White disease is a rare genodermatosis characterized by a keratinization disorder. It is inherited in an autosomal dominant manner with the defective gene located on the long arm of chromosome 12 (12q23-24), with a very high penetrance of over 95%1-5 and new mutations. Clinical case presentation: A couple seeking to conceive, in which the man is a carrier of Darier-White disease, undergoes in vitro fertilization with preimplantation testing for monogenic diseases. Diagnosis, interventions, and results: Prior to the informativeness study, the couple underwent two cycles of in vitro fertilization, obtaining eight blastocysts, which were biopsied to perform preimplantation genetic testing for monogenic diseases, resulting in two embryos that did not carry chromosomal alterations or the mutation for Darier-White disease. The treatment resulted in the birth of a baby not affected by Darier-White disease. Conclusions: Preimplantation genetic testing for monogenic diseases is an important genetic tool in reproductive medicine, allowing the identification of embryos that do not carry the altered gene that causes a hereditary genetic disease.