Novel mutations of epidermolysis bullosa identified using whole-exome sequencing in Indonesian Javanese patients

• DOI: 10.5582/irdr.2020.03150
• Publication Date: 2021-03-17T22:06:23Z
• Authors: Suci Widhiati; Retno Danarti; Niken Trisnowati; Dewajani Purnomosari; Tri Wibawa; Hardyanto Soebono
• Keywords: Sanger sequencing; dbSNP; Exome

Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases known to have heterogenicity phenotypes and genotypes. There are four main types EB: simplex, junctional, dystrophic, Kindler syndrome, which further classified into 34 distinct subtypes. Twenty different gene mutations responsible for the loss function integrity basal membrane zone. In limited-resource settings such as Indonesia, diagnoses hereditary disease often rely on clinical features. This limitation was managed by using Clinical Diagnostic Matrix EB diagnosis support whole-exome sequencing genetic analysis. study first analysis Javanese Indonesian patients with EB. The from identified all novel unreported in dbSNP database. syndrome FERMT1 frameshift mutation exon 4, at c.388A (p.I130fs), causes truncated protein; junctional generalized intermediate (JEB-GI) subtype missense LAMB3 position c.A962C (p.H321P); recessive dystrophic (RDEB) COL7A1 c.G5000T (p.G1667V). verified Sanger sequencing. new mutations' finding possibly due limited database Malayo-Polynesian ethnic group. Indonesia has hundreds groups, largest that populates Indonesia. Genetic data these groups important be established international combination diagnostic tools confirmed challenging epidermolysis bullosa.