Author(s)

Eduardo P. Mattos, Jose Antonio A. Magalhaes, Laureane Mittaz-Crettol, Ricardo Azambuja, Lilian Okada, Denise P. Cavalcanti, Juliana Cuzzi, Mariangela Badalotti, Rafaella Petracco, Alvaro Petracco, Lavinia Schuler-Faccini, Maria Teresa V. Sanseverino

Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.
Division of Molecular Pediatrics, Lausanne University Hospital, Lausanne, Switzerland.
Fertilitat Clínica de Reprodu??o, Porto Alegre, Brazil.
Fertilitat Clinica de Reproducao, Porto Alegre, Brazil.
Genesis Genetics Diagnosis, S?o Paulo, Brazil.
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
School of Medicine, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.
Skeletal Dysplasia Group, Medical Genetics Department, Faculty of Medicine, State University of Campinas, Campinas, Brazil.

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.

Atelosteogenesis Type 2, Diastrophic Dysplasia, Preimplantation Genetic Diagnosis, Prenatal Diagnosis, Skeletal Dysplasia

Mattos, E. , Magalhaes, J. , Mittaz-Crettol, L. , Azambuja, R. , Okada, L. , Cavalcanti, D. , Cuzzi, J. , Badalotti, M. , Petracco, R. , Petracco, A. , Schuler-Faccini, L. and Sanseverino, M. (2014) Atelosteogenesis Type 2/Diastrophic Dysplasia Phenotypic Spectrum: From Prenatal to Preimplantation Genetic Diagnosis. Open Journal of Obstetrics and Gynecology, 4, 399-404. doi: 10.4236/ojog.2014.47060.