De novo mutation in the gene encoding connexin‐26 (GJB2) in a sporadic case of keratitis‐ichthyosis‐deafness (KID) syndrome

Connexin 26 (GJB2) Mutations in Two Swedish Patients with Atypical Vohwinkel (Mutilating Keratoderma plus Deafness) and KID Syndrome Both Extensively Treated with Acitretin

“…The mutation identified in the KiD patient, p.Asp50Asn (c. 148G > A), has been reported previously and our data support that this mutation frequently is associated with KID syndrome (9,(18)(19)(20)(21)(22). The mutation in this case most likely occurred de novo, which is consistent with the fact that most cases of KID syndrome are sporadic.…”

Uso do bevacizumab (Avastin®) na síndrome KID: relato de caso

“…Mutações no gene GJB2 que codifica a conexina 26 -componente das "gap junctions" das células epiteliais -recentemente têm sido descritas em pacientes com síndrome KID. Embora a distribuição da conexina 26 na córnea ainda não esteja bem definida, disfunções nas "gap junctions" do epitélio corneano podem ser responsáveis por alterações da superfície ocular (10)(11)(12) . O tratamento ocular na síndrome KID é sintomático, não havendo ainda descrição de drogas ou tratamento cirúrgico que possam modificar o curso e prognóstico dessa doença.…”

Gap Junctions in Development and Disease

“…Connexin 26 Severe-profound SNHL, variable degree of diffuse PPK; leukonychia; knuckle pads and hyperkertotic plaques over interdigital joints ; van Geel et al (2002); van Steensel et al (2002); Alvarez et al (2003); Wasserman et al (2003); Yotsumoto et al (2003) Lamartine et al (2000); ; van Steensel et al (2003); Oculo-dentodigital dysplasia (ODDD) 1642000 AD GJA1 6q22-q24 Connexin 43 PPK, curly, sparse hair, nail dystrophy, craniofacial and limbal dysmorphism, ophthalmological, neurological and cardiac anomalies ; ; ; van Steensel et al (2004); Kellermayer et al (2004) Fig. 7.4.…”

“…7.4), both of which cluster on chromosome 13q11-q12.1 and have been also implicated in the etiology of nonsyndromic SNHL van Steensel et al 2002;Jan et al 2004). About 75% percent of KIDS patients (15 out of 20 cases) of various ethnic and geographic origins have been found to harbor a recurrent nucleotide transition in exon 2 of GJB2, replacing aspartic acid with asparagine in codon 50 (D50N) van Geel et al 2002a;van Steensel et al 2002;Alvarez et al 2003;Wasserman et al 2003;Yotsumoto et al 2003). The vertical transmission of mutation D50 N across subsequent generations in a family with KIDS confirmed the autosomal dominant inheritance of this disorder on a molecular level .…”