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>Journals >Revista de Investigación Clínica >Year 2018, Issue 4

Piña-Aguilar RE, González-Ortega C, Calull-Bago A, Lanuza-López MC, Cancino-Villarreal P, Gutiérrez-Gamiño AM, Gutiérrez-Gutiérrez AM
Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia
Rev Invest Clin 2018; 70 (4)

Language: Inglés
References: 12
Page: 164-168
PDF: 100.66 Kb.

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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.

Key words: Christ-Siemens-Touraine syndrome, X-linked disorder, Genodermatosis, Preimplantation genetic diagnosis.


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>Journals >Revista de Investigación Clínica >Year 2018, Issue 4

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