RASopathies

Gene: PPP1CB

Comment on mode of inheritance: Monoallelic MOI supported by OMIM and DD-G2P.

Created: 15 Aug 2017, 8:17 a.m.

Comment on list classification: Updated rating from Red to Green: >3 unrelated cases of PPP1CB variants linked to Noonan syndrome-like disorder with loose anagen hair (MIM:617506), and confirmed DD-G2P gene for 'Rasopathy with developmental delay, short stature and sparse slow-growing hair'.

Created: 15 Aug 2017, 8:16 a.m.

In a 12-year-old Brazilian boy with features of Noonan syndrome and hair abnormalities, Bertola et al. (2017, PMID:28211982) identified heterozygosity for the recurrent P49R mutation in PPP1CB.

Created: 15 Aug 2017, 8:14 a.m.

In a 9-year-old boy who was diagnosed with Noonan syndrome and also had unusual hair, Zambrano et al. (2017, PMID:27868344) identified heterozygosity for the P49R mutation in the PPP1CB gene, which was shown to have arisen de novo.

Created: 15 Aug 2017, 8:14 a.m.

In 4 unrelated patients with Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2; 617506), Gripp et al. (2016, PMID:27264673) identified heterozygosity for de novo missense mutations in the PPP1CB gene, including a recurrent P49R substitution in 3 patients, and an A56P substitution in 1 patient.

Created: 15 Aug 2017, 8:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Noonan syndrome-like disorder with loose anagen hair 2, 617506; Rasopathy with developmental delay, short stature and sparse slow-growing hair

Publications

• 27264673
• 28211982
• 27681385