PURE MUCOSAL NEUROMA SYNDROME

Pure mucosal neuroma syndrome is an autosomal dominant disorder characterised by mucosal neuromas. Patients may also present with Marfanoid body habitus, prominent corneal nerves and gingival hypertrophy.

Frameshift variants in the SOS1 gene have been reported in patients with Pure Mucosal Neuroma syndrome (Owens et al 2016 Clin Endocrinol (Oxf). ;84:715-719). All disease-causing variants identified to date have been identified in exon 20 of the SOS1 gene.