Primrose syndrome

Definition:

Primrose syndrome (PRIMS) is a rare genetic disorder, characterized by dysmorphic facial features, macrocephaly, and intellectual disability, as well as large body size, height and weight, and calcified pinnae. Recently, mutations in ZBTB20, coding for a zing finger protein, have been identified in PRIMS patients.

References:

[1]. Francesca Mattioli, et al. Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism. Am J Med Genet A. 2016 Jun;170(6):1626-9. [Content Brief]

[2]. Viviana Cordeddu, et al. Mutations in ZBTB20 cause Primrose syndrome. Nat Genet. 2014 Aug;46(8):815-7. [Content Brief]

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