A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E

The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity

“…KID patients have recurrent cutaneous infections that lead to lethal septicemia in severe cases where individuals carry the Cx26-G45E or Cx26-A88V mutations (15,18,20,38). Some cases of KID syndrome also show additional features comprising the follicular occlusion triad (dissecting folliculitis, hidradenitis suppurativa, and cystic acne) or display an increased incidence of squamous cell carcinoma (26,31,44).…”

Lethal Form of Keratitis–Ichthyosis–Deafness Syndrome Caused by the GJB2 Mutation p.Ser17Phe

“…Keratitis and hearing defects were not always found. Other abormalities were reported for 5 families: small or absent foreskin (6, 10, 11), facial dysmorphism (3,6) and abnormal fingers (6,(10)(11)(12). All cases died in the first year of life except our patient who died at 16 months of age.…”

“…The characteristics of reported patients with lethal KID syndrome are summarized in Table SI 1 (3,(6)(7)(8)(9)(10)(11)(12)(13)(14). There…”

“…All cases were de novo, except for 2 families in which a mosaic inheritance was suspected (6,10). Skin abnormalities started at birth except for 2 patients (disease began at 1 or 2 months).…”

A Novel Dominant and a De Novo Mutation in the GJB2 Gene (Connexin-26) Cause Keratitis-Ichthyosis-Deafness Syndrome

“…In the past years, mutation in different genes encoding members of the connexin group of gap junction proteins has been considered very likely responsible for hearing impairment and skin disorders, namely, GJB2 (connexin-26), GJB6 (connexin- 30), and GJB3 (connexin-31) (1Y3). Keratitis-ichthyosis-deafness (KID) syndrome (MIM 148210) is an unusual ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss (SNHL), and progressive erythrokeratoderma (4,5).…”