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Atelosteogenesis Type 2/Diastrophic Dysplasia Phenotypic Spectrum: From Prenatal to Preimplantation Genetic Diagnosis

Preusser Mattos, E., A. Magalhães, J. A., Mittaz-Crettol, L., Azambuja, R., Azambuja, R., Okada, L., P. Cavalcanti, D., Cuzzi, J., Badalotti, M., Petracco, R., Petracco, A., Schuler-Faccini, L. & Vieira Sanseverino, M. T., May-2014, In : Open Journal of Obstetrics and Gynecology. p. 399-404 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

  • Eduardo Preusser Mattos
  • José Antônio A. Magalhães
  • Laureane Mittaz-Crettol
  • Ricardo Azambuja
  • Ricardo Azambuja
  • Lilian Okada
  • Denise P. Cavalcanti
  • Juliana Cuzzi
  • Mariangela Badalotti
  • Rafaella Petracco
  • Alvaro Petracco
  • Lavinia Schuler-Faccini
  • Maria Teresa Vieira Sanseverino
Atelosteogenesis type II (AO2) and diastrophic dysplasia (DTD) are two recessively inherited, severe skeletal dysplasias caused by mutations in the SLC26A2 gene. AO2 is an invariably lethal condition, while DTD patients may reach adult life, although both diseases have overlapping diagnostic features. Here we report a patient with an intermediate phenotype between AO2 and DTD and present the successful application of preimplantation genetic diagnosis (PGD) in this situation. Sequencing of SLC26A2 alleles in the infant identified two compound heterozygous mutations, p.Arg178Ter and p.Arg279Trp, of paternal and maternal origin, respectively. At request from the parents, PGD was developed by haplotype mapping of parental SLC26A2 alleles in eleven five-day embryos. Transference to the mother was attempted twice, finally resulting in pregnancy and delivery of a healthy baby. This exemplifies the utility of PGD for inherited lethal conditions with a significant risk of recurrence, and highlights the importance of accurate diagnosis of skeletal dysplasias with prenatal manifestation.
Original languageEnglish
Pages (from-to)399-404
Number of pages6
JournalOpen Journal of Obstetrics and Gynecology
Publication statusPublished - May-2014

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