This website provides information on patients with mutations in the KCNH1 gene, including clinical data, molecular data, management, and research options.
The syndromes caused by mutations in the KCNH1 gene are known as Temple-Baraitser (TBS) and Zimmermann-Laband syndromes (ZLS). These two conditions are a part of a clinical spectrum with overlapping features. Affected individuals usually have small or absent nails (in particular, of the thumb and great toe) and overgrowth of the gums. Epilepsy is common. Most affected individuals have a degree of intellectual impairment, more so in TBS. Individuals with both TBS and ZLS have distinctive facial features. People with ZLS often have increased body hair and overgrowth of organs such as the liver and spleen.
Not all individuals with a mutation in the KCNH1 gene have these features.
This website was created to share and collect information about clinical, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the KCNH1 gene.
Michael Terrence Gabbett, MBBS FRACP, Clinical Geneticist, Centre for Genomics & Personalised Health, Queensland University of Technology, Brisbane, Australia, email@example.com