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Preimplantation genetic testing for monogenic/single gene disorders in a family with Molybdenum co-factor deficiency / 中华医学遗传学杂志
Article de Zh | WPRIM | ID: wpr-970894
Bibliothèque responsable: WPRO
ABSTRACT
OBJECTIVE@#To carry out preimplantation genetic testing for monogenic/single gene disorders (PGT-M) for a Chinese family affected with Molybdenum co-factor deficiency due to pathogenic variant of MOCS2 gene.@*METHODS@#A family with molybdenum co-factor deficiency who attended to the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region in April 2020 was selected as the research subject. Trophoblast cells were biopsied from blastocysts fertilized by intracytoplasmic sperm injection. Embryos carrying the MOCS2 gene variant and chromosome copy number variation (CNV) of more than 4 Mb were detected by single-cell whole genome amplification, high-throughput sequencing and single nucleotide polymorphism typing. Embryos without or carrying the heterozygous variant and without abnormal chromosome CNV were transplanted. During mid-pregnancy, amniotic fluid sample was collected for prenatal diagnosis to verify the results of PGT-M.@*RESULTS@#Eleven oocytes were obtained, among which three blastocysts were formed through culturing. Results of genetic testing suggested that one embryo was heterozygous for the maternally derived MOCS2 gene variant and without chromosomal CNV. Following embryo transfer, intrauterine singleton pregnancy was attained. Prenatal diagnosis by amniocentesis at 18 weeks of gestation revealed that the MOCS2 gene variant and chromosomal analysis results were both consistent with that of PGT-M, and a healthy male infant was born at 37+5 weeks of gestation.@*CONCLUSION@#PGT-M has helped the couple carrying the MOCS2 gene variant to have a healthy offspring, and may become an important method for couples carrying other pathogenic genetic variants.
Sujet(s)
Texte intégral: 1 Indice: WPRIM Sujet Principal: Chine / Dépistage génétique / Diagnostic préimplantatoire / Variations de nombre de copies de segment d'ADN / Aneuploïdie / Erreurs innées du métabolisme des métaux Limites du sujet: Female / Humans / Pregnancy Pays comme sujet: Asia langue: Zh Texte intégral: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Année: 2023 Type: Article
Texte intégral: 1 Indice: WPRIM Sujet Principal: Chine / Dépistage génétique / Diagnostic préimplantatoire / Variations de nombre de copies de segment d'ADN / Aneuploïdie / Erreurs innées du métabolisme des métaux Limites du sujet: Female / Humans / Pregnancy Pays comme sujet: Asia langue: Zh Texte intégral: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Année: 2023 Type: Article