Whole and clinical exome sequencing analysis for diagnosis of epidermolysis bullosa

Erciyes Medical Genetics Days 2019, Kayseri, Türkiye, 21 - 23 Şubat 2019, ss.21, (Özet Bildiri)

OP-21-025

Whole and clinical exome

sequencing analysis for diagnosis

of epidermolysis bullosa

Bulent Uyanik1

, Sezin Canbek2

, Betul Tas3

Department of Medical Genetics, Bagcilar Training and Research

Hospital, Istanbul, Turkey

Department of Medical Genetics, Umraniye Training and

Research Hospital, Istanbul, Turkey

Department of Dermatology, Bagcilar Training and Research

Hospital, Istanbul, Turkey

Epidermolysis bullosa (EB) is a clinically and genetically hetero-

geneous skin fragility disorder. It is identified by mechanical

tenderness, blisters and erosions both skin and mucosa. EB is

classified into four main types, based on the depth, or level of

blister formation. Most common type is Epidermolysis Bul-

losa Simplex (EBS) and other types are Dystrophic Epidermol-

ysis Bullosa (DEB), Junctional Epidermolysis Bullosa (JEB) and

Kindler Syndrome. For twenty seven patients with clinical EB

subtypes, we made whole exome sequencing and clinical exome

sequencing analysis using Illumina Next Seq 500 sequencer

with 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 analyzed

by Sophia DDM® Software with filtering EB related following

genes: 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 prevalent

mutated gene is COL7A1. There are two recurrent mutations

COL17A1 c.1141+5G>A and COL7A1 exon 13-24 homozygous

novel deletion. We will have better understanding of the Turk-

ish EB patients mutation spectrum with our findings.