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Table 1 Disorders and main clinical features associated with MBTPS2 mutations

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

  1. IFAP Ichthyosis follicularis, atrichia and photophobia syndrome, OI Osteogenesis imperfecta, KFSD Keratosis follicularis spinulosa decalvan, OS Olmsted syndrome