This website provides information on patients with mutations in the LSS gene, including clinical data, molecular data, management and research options.
The syndrome caused by biallelic pathogenic variants in the LSS gene (OMIM *600909) is a multisystem disorder called Alopecia-mental retardation syndrome 4 (OMIM #618840). It is characterized by alopecia universalis, and psychomotor retardation of varying degrees, frequently associated with early-onset epilepsy and other dermatological features.
Not all individuals with biallelic pathogenic variants in the LSS gene have these features. Biallelic variants in the LSS gene can also cause nonsyndromic hypotrichosis (OMIM #618275). This gene has also been associated with congenital cataract (OMIM #616509)
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the LSS gene.
Thomas Besnard, PhD, CHU de Nantes, Service de Génétique Médicale, Nantes, France, firstname.lastname@example.org
Bertrand Isidor, MD, PhD, CHU de Nantes, Service de Génétique Médicale, Nantes, France, email@example.com