Whole and clinical exome sequencing analysis for diagnosis of epidermolysis bullosa

Abstract

OP-21-025Whole and clinical exomesequencing analysis for diagnosisof epidermolysis bullosaBulent Uyanik1, Sezin Canbek2, Betul Tas31Department of Medical Genetics, Bagcilar Training and ResearchHospital, Istanbul, Turkey2Department of Medical Genetics, Umraniye Training andResearch Hospital, Istanbul, Turkey3Department of Dermatology, Bagcilar Training and ResearchHospital, Istanbul, TurkeyEpidermolysis bullosa (EB) is a clinically and genetically hetero-geneous skin fragility disorder. It is identified by mechanicaltenderness, blisters and erosions both skin and mucosa. EB isclassified into four main types, based on the depth, or level ofblister formation. Most common type is Epidermolysis Bul-losa Simplex (EBS) and other types are Dystrophic Epidermol-ysis Bullosa (DEB), Junctional Epidermolysis Bullosa (JEB) andKindler Syndrome. For twenty seven patients with clinical EBsubtypes, we made whole exome sequencing and clinical exomesequencing analysis using Illumina Next Seq 500 sequencerwith Agilent SureSelect Human All Exon V5 and Sophia Genet-ics - Clinical Exome Solution kit. All single nucleotide variations(SNV) and also copy number variations (CNV) have analyzedby Sophia DDM® Software with filtering EB related followinggenes: ATP2C1, CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA,DSG1, DSG2, DSG4, DSP, DST, EXPH5, FERMT1, GRIP1, ITGA3,ITGA6, ITGB4, JUP, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3,LAMC2, MMP1, PKP1, PLEC, TGM5, EDAR, KLHL24, AREI, PSS4,STF1, STFA. We found mostly novel mutations. Most prevalentmutated gene is COL7A1. There are two recurrent mutationsCOL17A1 c.1141+5G>A and COL7A1 exon 13-24 homozygousnovel deletion. We will have better understanding of the Turk-ish EB patients mutation spectrum with our findings.