Related Experiment Video
Updated: Aug 14, 2026
RNA Isolation from Mouse Ocular Lens Epithelium and Fiber Cell Bulk Masses
Published on: October 10, 2025
[Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome]
Barbara Binder1, Hans Christian Hennies, Raimund Kraschl
1Univ.-Klinik für Dermatologie und Venerologie, Graz, Osterreich. barbara.binder@klinikum-graz.at
Background:
Keratitis-ichthyosis-deafness syndrome (KID syndrome) is an extremely rare disorder. Inheritance is autosomal dominant but many cases occur sporadically following a spontaneous mutation. The cause of KID syndrome are missense mutations of the gene GJB2, encoding connexin 26.
Patients And Methods:
We clinically studied two cases of KID syndrome and extracted genomic DNA from peripheral blood.
Results:
The patients showed different heterozygous mutations of the connexin 26 gene and had quite different clinical courses.
Conclusions:
Both patients showed heterozygous mutations of the connexin 26 gene; a different Cx26 dominant mutation can cause a very different clinical course.
Related Concept Videos
01:33Pleiotropy
03:14Notch Signaling Pathway
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
00:50Unrenewable Cells
Photoreceptors
The retina is composed of several layers and contains specialized cells called photoreceptors. The photoreceptors (rods and cones) change their membrane potential when stimulated by light energy. There are two types of photoreceptors—rods and cones—which differ in the shape of their outer...