The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome

Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran

“…Similar to our findings, the basement membrane changes may be evident in a broad reticulated labeling pattern in both specimens . Recently some junctional cases with collagen XVII mutation have been reported that resemble Kindler syndrome, both clinically and immunohistochemically . Therefore, it seems a definite diagnosis of Kindler syndrome is impossible without gene sequencing …”

“…Recently some junctional cases with collagen XVII mutation have been reported that resemble Kindler syndrome, both clinically and immunohistochemically . Therefore, it seems a definite diagnosis of Kindler syndrome is impossible without gene sequencing …”

Immunofluorescence mapping in inherited epidermolysis bullosa: a study of 86 cases from India

“…However, there was only one case where laminin 332 staining was normal, and that was observed to the roof of the blister. This observation could be explained by the case having a milder phenotype of JEB, or the target protein being type XVII collagen or integrin a3 as reported by Has et al 12,13 The various subtypes of DEB are caused by mutations in the type VII collagen gene. Expression of this protein may be reduced or completely absent depending on the subtypes.…”

A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases

“…The evaluation of KS remains challenging, in particular in cases without fullblown clinical picture (Lai-Cheong et al, 2008;Has et al, 2014b). This is due to three factors: (i) the KS phenotype may overlap with those of other EB types; (ii) specific antibodies to kindlin-1 are not widely available and display faint immunostaining signals, even in normal human skin, probably because of the discrete distribution of "focal adhesion" equivalents in the tissue; and (iii) the broad spectrum of mostly private FERMT1 mutations and mutational mechanisms (HGMD professional 2015.1, https://gre nada.lumc.nl/LOVD2/) (Fuchs-Telem et al, 2014;Youssefian et al, 2015).…”