Autosomal recessive microcephaly and chorioretinopathy

Definition:

Autosomal-recessive microcephaly and chorioretinopathy (MCCRP) is a rare developmental disorder characterized by primary microcephaly, delayed psychomotor development, growth retardation with dwarfism, and visual impairment. In MCCRP, microcephaly ranges from mild to severe and has variable impact on cognitive performance, ranging from moderate developmental delay to normal intelligence. The features of the visual impairment in MCCRP patients are variable, but the chorioretinopathy is a constant feature and includes typical punched-out lesions that can severely impair vision and occasional retinal folds that can progress to retinal detachment. To date, three responsible genes have been described.

References:

[1]. Carol-Anne Martin, et al. Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat Genet. 2014 Dec;46(12):1283-1292. [Content Brief]

[2]. Erik G Puffenberger, et al. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One. 2012;7(1):e28936. [Content Brief]

[3]. Makiko Tsutsumi, et al. Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy. Eur J Hum Genet. 2016 Dec;24(12):1702-1706. [Content Brief]

[4]. Ranad Shaheen, et al. Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism. J Med Genet. 2014 Dec;51(12):814-6. [Content Brief]

[5]. Sophie Scheidecker, et al. Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy. Am J Hum Genet. 2015 Apr 2;96(4):666-74. [Content Brief]

[6]. V A McKusick, et al. Chorioretinopathy with hereditary microcephaly. Arch Ophthalmol. 1966 May;75(5):597-600. [Content Brief]

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