Cryopyrin-Associated Periodic Syndromes study with Targeted-Capture, WGS data on dbGaP (17 participants)

phs003807 — Gene-Specific RNA Sequencing in PLCG2-Associated Immune Dysregulation    with Cold Urticaria

<p>This study utilized gene-specific RNA-sequencing of <a href="https://www.ncbi.nlm.nih.gov/gene/5336">PLCG2 </a>to screen for disease causing in-frame exon-skipping transcripts of PLCG2 in a collection of 9 subjects with cold urticaria, 2 subjects with known PLCG2-associated antibody deficiency and immune dysregulation (PLAID)-causing deletions of PLCG2 (positive controls) and 3 healthy subjects (negative controls). Full length cDNA of PLCG2 was generated using gene specific reverse transcription of peripheral blood mononuclear cell RNA. The full length PLCG2 cDNA was used as the template to create Illumina sequencing libraries. To identify the underlying genetic basis for the exon-skipping transcripts, trio-based whole genome sequencing was performed for probands in whom in-frame exon-skipping transcripts of PLCG2 were identified.</p>