Noonan-like syndrome with loose anagen hair

Definition:

Noonan-like syndrome with loose anagen hair (NSLH) is characterized by features similar to those observed in Noonan syndrome. Besides, the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow growing. NSLH is caused by the mutations in SHOC2. Recently, the novel NSLH with mutations in PPP1CB has been identified.

References:

[1]. Débora Bertola, et al. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. Am J Med Genet A. 2017 Mar;173(3):824-828. [Content Brief]

[2]. Viviana Cordeddu, et al. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet. 2009 Sep;41(9):1022-6. [Content Brief]

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