Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia
Título del documento: Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia
Revista: Revista de investigación clínica
Base de datos: PERIÓDICA
Número de sistema: 000456911
ISSN: 0034-8376
Autores: 1
1
1
1
1
1
1
Instituciones: 1Instituto de Ciencias de la Reproducción Humana "Vida", León, Guanajuato. México
Año:
Volumen: 70
Número: 4
Paginación: 164-168
País: México
Idioma: Inglés
Tipo de documento: Artículo
Enfoque: Analítico, descriptivo
Resumen en inglés 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
Disciplinas: Medicina
Palabras clave: Genética,
Diagnóstico,
Herencia ligada al sexo,
Síndrome de Christ-Siemens-Touraine,
Genodermatosis,
Diagnóstico genético preimplantación
Keyword: Genetics,
Diagnosis,
X-linked inheritance,
Christ-Siemens-Touraine syndrome,
Genodermatosis,
Preimplantation genetic diagnosis
Texto completo: https://www.medigraphic.com/pdfs/revinvcli/nn-2018/nn184c.pdf