HID and KID syndromes are associated with the same connexin 26 mutation.

  title={HID and KID syndromes are associated with the same connexin 26 mutation.},
  author={Michel Van van Geel and Maurice A. M. van Steensel and Wolfgang K{\"u}ster and H C Hennies and Rudolf Happle and Peter M. Steijlen and Arne K{\"o}nig},
  journal={The British journal of dermatology},
  volume={146 6},
BACKGROUND Keratitis-ichthyosis-deafness (KID) syndrome is a debilitating ectodermal dysplasia that predisposes patients to develop squamous cell carcinomas in addition to leading to profound sensory deafness and erythrokeratoderma. We recently demonstrated that KID can be caused by a specific missense mutation in connexin 26 (GJB2). Another syndrome, called hystrix-like ichthyosis-deafnesss (HID) syndrome, strongly resembles the KID syndrome. These disorders are distinguished mainly on the… CONTINUE READING


Publications citing this paper.
Showing 1-10 of 23 extracted citations

Human diseases associated with connexin mutations.

Biochimica et biophysica acta. Biomembranes • 2018
View 8 Excerpts
Highly Influenced

Connexin channels in congenital skin disorders.

Seminars in cell & developmental biology • 2016
View 11 Excerpts
Highly Influenced

Similar Papers

Loading similar papers…