Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5

Table 1

Genetics of Congenital EBS in selected Asian reports.

Ethnicity	Genetics [27]	Year of publication (reference number)
Southern Chinese (Hong Kong) n = 2	KRT14 (NM_000526.4 (c.377T>G, p.Leu126Arg)); KRT5 (NM_000424.3 (c.527A>G, p.Asn176Ser))	Present series
Japanese, n = 16	KRT 5; KRT14	2013 [18]
Chinese, n = 1	KRT5	2016 [20]
Korean, n = 15	KRT5 (p.Val143Phe, p.Arg265Pro, p.Cys479X, p.Asn177del, and p.Glu477Lys); KRT14 (p.Arg125Leu, p.Leu401Pro, and p.Arg125His)	2010 [28]
Chinese, n = 2 pedigrees	KRT5 (a heterozygous T>A transition at nucleotide 1730, changing phenylalanine (Phe) to tyrosine (Tyr) at position 577); KRT5 (two recurrent mutations c.1649delG (p.Gly550AlafsX77) and c.508G>(p.Glu170Lys in Chinese patients with mottled pigmentation EBS and localized EBS, respectively)	2009 [29]