Noonan syndrome (NS) is a neurocardiofacialcutaneous syndrome, found in 1 in 1,000-2,500 people and LZTR1 variants account for up to 8% of these. NS causes facial and musculoskeletal dysmorphology and intellectual disability. It can be inherited in either an autosomal dominant or autosomal recessive manner.
LZTR1-related schwannomatosis is a rare neurogenetic disorder characterised by the development of multiple benign tumours of the nervous system. These tumours are schwannomas, derived from Schwann cells that surround nerves and are normally found in the spinal or peripheral nerves. The prevalence of LZTR1-related schwannomatosis is estimated to be approximately 1 in 421,050.
LZTR1