Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia.

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 bla

SUBMITTER: Alberola TM 

PROVIDER: S-EPMC3082661 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature