From: MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders
Disorders | Main clinical features | Mutation | Amino acid change |
---|---|---|---|
IFAP | Ichthyosis follicularis, alopecia, photophobia, non-inflammatory thorn-like follicular keratosis, hyperkeratosis, dystrophic nails, ectopic keratoconjunctivitis, corneal scars, corneal erosion, and neovascularization | c.71T > C | p.L24P |
c.261G > A | p.M87I | ||
c.667G > T | p.W226L | ||
c.680A > T | p.H227L | ||
c.686T > C | p.F229S | ||
c.758G > C | p.G253A | ||
c.774C > G | p.I258M | ||
c.1001G > A | p.C334Y | ||
c.1286G > A | p.R429H | ||
c.1360G > C | p.A454P | ||
c.1424T > C | p.F475S | ||
c.1427T > C | p.L476S | ||
c.1430A > T | p.D477V | ||
c.1433C > A | p.A478D | ||
c.1499G > A | p.G500D | ||
c.1523A > G | p.N508S | ||
c.1538T > C | p.L513P | ||
c.671-9T > G | p.I225Lfs*25 | ||
IFAP with BRESHECK | Ichthyosis follicularis, atrichia, photophobia, with brain anomalies, intellectual disability, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESHECK) | c.1286G > A | p.R429H |
KFSD | Diffuse follicular hyperkeratosis, progressive cicatricial alopecia of the scalp, eyebrows, and eyelashes, photophobia, blepharitis/conjunctivitis, and corneal dystrophy | c.599C > T | p.A200V |
c.1499G > A | p.G500D | ||
c.1523A > G | p.N508S | ||
c.638C > T | p.S213L | ||
OS | Periorificial keratotic plaques, bilateral palmoplantar transgredient keratoderma, diffuse alopecia, leukokeratosis of oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular keratosis, and constriction of digits | c.671-9T > G | p.I225Lfs*25 |
c.1391T > C | p.F464S | ||
c.1424T > C | p.F475S | ||
OI Type XIX | Low bone mass, progressive bone deformities with increased fracture frequencies, craniofacial abnormalities, scoliosis, atraumatic subluxations, dentinogenesis imperfecta, hearing impairments, blue sclerae, and lung abnormalities | c.1376A > G | p.N459S |
c.1515G > C | p.L505F |