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Series GSE111781 Query DataSets for GSE111781
Status Public on Apr 04, 2018
Title Tetra-Amelia with lung aplasia phenotype
Organism Homo sapiens
Experiment type Genome variation profiling by SNP array
Summary 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.
Overall design 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)
Contributor(s) Yucel EB, Altunoglu U, Kayserili H
Citation(s) 29769720
Submission date Mar 13, 2018
Last update date May 18, 2018
Contact name Esra Yucel
Phone +905448504340
Organization name Koc University Hospital
Department Diagnosis Centre For Genetic Disorders
Lab Molecular Genetics Lab
Street address Davutpasa Cd. No:4
City Istanbul
State/province Topkapı
ZIP/Postal code 34010
Country Turkey
Platforms (1)
GPL13829 Illumina HumanCytoSNP-12 v2.1 BeadChip
Samples (1)
GSM3039647 AF_cultured_DNA
BioProject PRJNA438127

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE111781_RAW.tar 3.9 Mb (http)(custom) TAR (of IDAT)
GSE111781_signal_intensities.txt.gz 3.5 Mb (ftp)(http) TXT
Processed data included within Sample table

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