Preimplantation Genetic Testing for Rare Inherited Disease of MMA-CblC: an Unaffected Live Birth
| Autor: | Xinlian Chen, Yuezhi Keqie, Ting Hu, He Wang, Hongmei Zhu, Fan Zhou, Xuemei Zhang, Cuiting Peng, Shanling Liu, Yutong Li, Jun Ren |
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| Rok vydání: | 2021 |
| Předmět: |
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Adult Male Biology Compound heterozygosity symbols.namesake Neonatal Screening Rare Diseases Pregnancy medicine Humans Genetic Testing Allele Preimplantation Diagnosis Genetic testing Sanger sequencing Genetics medicine.diagnostic_test MALBAC Infant Newborn Obstetrics and Gynecology Vitamin B 12 Deficiency Sequence Analysis DNA Embryo Transfer MMACHC Pedigree Child Preschool symbols Female Homocystinuria CBLC Live Birth |
| Zdroj: | Reproductive sciences (Thousand Oaks, Calif.). 28(12) |
| ISSN: | 1933-7205 |
| Popis: | Methylmalonic acidemia combined with homocysteinemia and cobalamin C type (MMA-CblC, MIM # 277400) is a rare inherited disease with cobalamin metabolic disorder, which are caused by deficiency in the MMACHC gene. A couple with a proband child carried with compound heterozygous mutations of MMACHC (c.609G>A and c.567 dup T, NM_015506) sought for assisted reproductive technology to avoid the transmission of pathogenic genetic variants and unnecessary induction of labor. Thus, in vitro fertilization (IVF), preimplantation genetic testing (PGT), and prenatal genetic diagnosis were applied to fulfill this clinical demand. In this study, seven embryos were biopsied and carried out whole-genome amplification using multiple annealing and looping-based amplification cycle (MALBAC) method. Sanger sequencing together with copy number variation (CNV) analysis and single-nucleotide polymorphism (SNP) haplotyping was conducted to detect the mutated alleles and chromosomal abnormalities simultaneously. Three embryos (E07, E06, and E02) were confirmed without CNVs and inherited mutations at MMACHC gene. Embryo E07 with the best embryo ranking of 5BB was selected preferentially to transfer which led to a successful pregnancy and an unaffected live birth. Prenatal genetic diagnosing with amniotic fluid cells, Sanger sequencing with cord blood cells, and neonate MMA screening further verified our successful application of PGT in preventing mutated allele transmission for this rare inherited disease. |
| Databáze: | OpenAIRE |
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