Ichthyosis and erythrokeratoderma
Gene: SERPINB7
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
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.
Phenotypes for gene: SERPINB7 were changed from palmoplantar keratoderma, recurrent tinea; Palmoplantar keratoderma, Nagashima type, 615598 to palmoplantar keratoderma, recurrent tinea; Palmoplantar keratoderma, Nagashima type, OMIM:615598
gene: SERPINB7 was added gene: SERPINB7 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: SERPINB7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINB7 were set to 27666198; 26926003; 24207119; 25788444; 24514002; 24773080; 25940237; 26763456; 25029323; 28211129 Phenotypes for gene: SERPINB7 were set to palmoplantar keratoderma, recurrent tinea; Palmoplantar keratoderma, Nagashima type, 615598