Bainbridge-Ropers syndrome

Definition:

Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in ASXL3 gene. Common emerging features include severe intellectual disability, speech impairment, autistic traits, distinct face, hypotonia, and significant feeding difficulties.

References:

[1]. M Balasubramanian, et al. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. J Med Genet. 2017 Aug;54(8):537-543. [Content Brief]

[2]. Matthew N Bainbridge, et al. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med. 2013 Feb 5;5(2):11. [Content Brief]

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