Palmoplantar keratoderma and erythrokeratodermas

Gene: SERPINB7

Green List (high evidence)

Compound heterozygous and recessive. Mainly reported in Japanese and Han Chinese.

Created: 14 Mar 2017, 7:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
palmoplantar keratoderma, recurrent tinea

Publications

• 28211129
• 27666198
• 26926003
• 26763456
• 25940237
• 25788444
• 25029323
• 24773080
• 24514002
• 24207119

Comment on list classification: Updated rating from Amber to Green: 1 green review plus sufficient unrelated cases (>3) in Japanese and Chinese-Han populations to support causation of PPK phenotype.

Created: 20 Mar 2017, 12:53 p.m.

Comment on list classification: Updated rating from Red to Amber ready for Expert review. >3 unrelated cases supporting a link between SERPINB7 and PPKN.

Created: 10 Jan 2017, 3:28 p.m.

Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.

Created: 9 Jan 2017, 5:20 p.m.

In affected members of 10 Japanese families with PPKN, Mizuno et al. (2014, PMID:24773080) identified homozygosity or compound heterozygosity for SERPINB7 mutations (see, e.g., 603357.0001-603357.0003). All of the patients carried R266X on at least 1 allele.

Created: 9 Jan 2017, 5:18 p.m.

In 7 sporadic Chinese patients with PPKN, Yin et al. (2014, PMID:24514002) identified homozygosity or compound heterozygosity for mutations in the SERPINB7 gene; the recurrent R266X mutation was present in homozygosity in 4 patients and in compound heterozygosity with another mutation in 2; these 6 patients shared a common mutant haplotype, indicating that R266X likely represents a founder mutation rather than a mutation hotspot.

Created: 9 Jan 2017, 5:17 p.m.

In 13 unrelated Japanese patients with the Nagashima type of palmoplantar keratoderma (PPKN; 615598), Kubo et al. (2013, PMID:24207119) identified homozygosity or compound heterozygosity for 3 different truncating mutations in the SERPINB7 gene, including R266X.

Created: 9 Jan 2017, 5:17 p.m.