Proud syndrome

Definition:

Proud syndrome is a syndromic X-linked mental retardation, characterized by agenesis of the corpus callosum, and abnormal genitalia. ARX is considered to have an important role in neuronal proliferation, interneuronal migration and differentiation in the embryonic brain, and also in the differentiation of the testis. Phenotypes associated with ARX mutations include both brain malformation and non-malformation syndromes. Premature termination mutations and missense mutations in the homeobox domain cause malformation syndromes such as Proud syndrome.

References:

[1]. Mitsuhiro Kato, et al. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat. 2004 Feb;23(2):147-159. [Content Brief]

[2]. Yuko Shinozaki, et al. Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms. Brain Dev. 2009 Jun;31(6):469-72. [Content Brief]

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