EP108: PPP1CB-related Noonan syndrome with loose anagen hair presenting with focal cortical dysplasia and epilepsy

Abstract

Noonan syndrome with loose anagen hair (NS-LAH) is a rasopathy originally associated with a single recurrent missense SHOC2 variant. More recently, variants in PPP1CB have also been described in a number of patients with symptoms resembling those of NS-LAH including relative macrocephaly, low set, posteriorly rotated ears, developmental delay and slow growing or sparse hair. Many patients have a recurrent NM_206876.1:c.146C>G, p.Pro49Arg pathogenic variant, but a few other variants have been described as well.