Abstract
Purpose
Development of an ad hoc protocol for the preimplantion genetic diagnosis of propionic acidemia in a couple carrying the mutations c.737G>T (G246V) and c.1218del14ins12 (ins/del) in the PCCB gene. Propionic acidemia is an autosomal recessive metabolic disorder where the body is unable to process certain parts of proteins and lipids. Symptoms manifest few days after birth and sometimes progress to more serious medical problems, including heart abnormalities, coma and death.
Methods
Four short tandem repeat markers closely linked to the PCCB gene were tested, in order to support the direct mutation detection diagnosis. Multiplex fluorescent heminested polymerase chain reaction followed by fragment analysis and minisequencing was used.
Results
Fourteen single blastomeres from nine embryos were tested and two carrier embryos were transferred, resulting in the birth of two healthy boys.
Conclusions
Preimplantation genetic diagnosis represents a valid reproductive option for couples affected of propionic acidemia, in order to avoid transmission to offspring.
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Capsule A description of a PGD cycle for the detection of propionic acidemia, resulting in the birth of two healthy boys.
A couple with a dead son affected of propionic acidemia underwent preimplantation genetic diagnosis to prevent the transmission of this disease to their offspring
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Alberola, T.M., Bautista-Llácer, R., Vendrell, X. et al. Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia. J Assist Reprod Genet 28, 211–216 (2011). https://doi.org/10.1007/s10815-010-9514-4
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DOI: https://doi.org/10.1007/s10815-010-9514-4