Tetra-Amelia with lung aplasia phenotype

Clinical findings of this case has been reported previously by Sergio de Sousa (American Journal of Medical Genetics Part A 146A:2799–2803 (2008)). RSPO2 gene has been identified by our group (İstanbul, Turkey, 2014) as responsible gene for Tetra-Amelia with lung aplasia phenotype. To find causative pathogenic variations, sanger sequencing of fetal DNA was performed and did not reveal any variations. 300K SNP array was performed to analyse possible CNVs. A homozygous 154kb deletion on chr8 (deletion break points:108,809,266-108,963,256) covering intron 5 (partial), exon 6 and 3'UTR (partial) of RSPO2 gene was identified as the causative deletion. Genomic DNA extracted from AF culture cells was scanned according to the array barcodes and Infinium HumanCytoSNP-12 v2.1 BeadChips datasheets (Illumina). Data was analysed with GenomeStudio Software (Illumina)