A healthy delivery of twins by assisted reproduction followed by preimplantation genetic screening in a woman with X-linked dominant incontinentia pigmenti

Abstract

The purpose of this study is to report a successful twin pregnancy and delivery in a female patient with X-linked dominant incontinentia pigmenti (IP) who underwent assisted reproductive technology followed by preimplantation genetic screening (PGS). A 29-year-old female with IP had a previous history of recurrent spontaneous abortion. A molecular analysis revealed the patient had a de novo mutation, 1308_1309insCCCCTTG(p.Ala438ProfsTer26), in the inhibitor of the kappa B kinase gamma gene located in the Xq28 region. IVF/ICSI and PGS was performed, in which male embryos were sexed using array-based comparative genomic hybridization (aCGH). After IVF/ICSI and PGS using aCGH on seven embryos, two euploid male blastocysts were transferred with a 50% probability of a viable male pregnancy. The dizygotic twin pregnancy was confirmed and the amniocentesis results of each twin were normal with regard to the mutation found in the mother. The patient delivered healthy twin babies during the 37th week of gestation. This case shows the beneficial role of PGS in achieving a successful pregnancy through euploid male embryo gender selection in a woman with X-linked dominant IP with a history of multiple male miscarriages.

Incontinentia Pigmenti

“…5. Preimplantation genetic diagnosis may be available for families in which the disease-causing mutation has been identified previously: a healthy delivery of twins by assisted reproduction followed by preimplantation genetic screening was reported in a woman with X-linked dominant incontinentia pigmenti (Kim et al 2014). 3.…”

A novel frameshift mutation of the IKBKG gene causing typical incontinentia pigmenti

“…A deletion of exons 4-10 in the IKBKG gene can be found in 80% of IP patients [1]. To date, in IP patients 69 different mutations in the IKBKG gene have been reported [3,4,5]. These mutations originate from different molecular mechanisms [6].…”