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

Research output: Contribution to journalArticle

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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Anhidrotic Ectodermal Dysplasia 1
Genetic Testing
Aneuploidy
Ovulation Induction
Mutation
Hypotrichosis
Single Embryo Transfer
Hypohidrosis
Anodontia
Reproductive Techniques
Pregnancy
X-Linked Genes
Precision Medicine
Embryo Transfer
Blastocyst
Infertility
Genes
Oocytes
Reproduction
Skin

Keywords

  • PREIMPLANTATION GENETIC DIAGNOSIS
  • X-linked disease
  • Embryos

Cite this

Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia. / Piña-Aguilar, Raul; González-Ortega, Claudia; Calull-Bago, Anna; Lanuza-López, María Cristina; Cancino-Villarreal, Patricia; Gutiérrez-Gamiño, Ana Mireya; Gutiérrez-Gutiérrez, Antonio Martin.

In: Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion, Vol. 70, No. 4, 2018, p. 164-168.

Research output: Contribution to journalArticle

Piña-Aguilar, Raul ; González-Ortega, Claudia ; Calull-Bago, Anna ; Lanuza-López, María Cristina ; Cancino-Villarreal, Patricia ; Gutiérrez-Gamiño, Ana Mireya ; Gutiérrez-Gutiérrez, Antonio Martin. / Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia. In: Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion. 2018 ; Vol. 70, No. 4. pp. 164-168.
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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.",
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T1 - Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia

AU - Piña-Aguilar, Raul

AU - González-Ortega, Claudia

AU - Calull-Bago, Anna

AU - Lanuza-López, María Cristina

AU - Cancino-Villarreal, Patricia

AU - Gutiérrez-Gamiño, Ana Mireya

AU - Gutiérrez-Gutiérrez, Antonio Martin

N1 - Copyright: © 2017 SecretarÍa de Salud.

PY - 2018

Y1 - 2018

N2 - 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.

AB - 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.

KW - PREIMPLANTATION GENETIC DIAGNOSIS

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