Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia

Raul Piña-Aguilar, Claudia González-Ortega, Anna Calull-Bago, María Cristina Lanuza-López, Patricia Cancino-Villarreal, Ana Mireya Gutiérrez-Gamiño, Antonio Martin Gutiérrez-Gutiérrez

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Abstract

Background: Hypohidrotic ectodermal dysplasia (HED) is a genetic skin condition presenting as hypohidrosis, hypodontia, and hypotrichosis, resulting in an important burden for affected families. The most common form of HED has an X-linked inheritance and female carriers have the option of prenatal or preimplantation genetic testing (PGT) to avoid transmission of the disease. A combined PGT for a mutation in EDA gene and aneuploidies in a Mexican carrier of X-linked HED is reported.

Materials and Methods: Ovarian stimulation and assisted reproduction procedures were performed in a private academic medical center. PGT for a novel c.707-1G>A (rs886039466) mutation in EDA gene and chromosomal aneuploidies was performed by massive parallel and Sanger sequencing.

Results: In the first PGT, the transfer of two blastocysts did not result in a pregnancy. An accumulative stimulation approach was decided to improve pregnancy chances for a second PGT procedure. Three ovarian stimulations were performed and 10 blastocysts coming from fresh and vitrified oocytes were genetically analyzed. A single embryo transfer produced a healthy non-carrier euploid girl.

Discussion: PGT combining aneuploidy and mutation analyses is an alternative for female carriers of X-linked and other Mendelian disorders in Latin-American countries. In the era of genomic and personalized medicine, medically assisted reproduction techniques, such as PGT, are shifting from only infertility to preventive genetics.

Original languageEnglish
Pages (from-to)164-168
Number of pages5
JournalRevista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion
Volume70
Issue number4
DOIs
Publication statusPublished - 2018

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Keywords

  • PREIMPLANTATION GENETIC DIAGNOSIS
  • X-linked disease
  • Embryos

Cite this

Piña-Aguilar, R., González-Ortega, C., Calull-Bago, A., Lanuza-López, M. C., Cancino-Villarreal, P., Gutiérrez-Gamiño, A. M., & Gutiérrez-Gutiérrez, A. M. (2018). Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia. Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion, 70(4), 164-168. https://doi.org/10.24875/RIC.18002562