Cleft palate, psychomotor retardation, and distinctive facial features

Definition:

Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) is a new genetic disorder that phenotypically resembles the Kabuki syndrome [DS:H00570] but with distinctive facial features, skeletal anomalies, and cognitive impairment. It has been reported that de novo mutations in KDM1A cause this disease. KDM1A is a histone demethylase that has been shown to play diverse and key roles in regulating gene expression during development.

References:

[1]. Jessica X Chong, et al. Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Genet Med. 2016 Aug;18(8):788-95. [Content Brief]

[2]. Sanjin Tunovic, et al. De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. Am J Med Genet A. 2014 Jul;164A(7):1744-9. [Content Brief]

[3]. Simona Pilotto, et al. LSD1/KDM1A mutations associated to a newly described form of intellectual disability impair demethylase activity and binding to transcription factors. Hum Mol Genet. 2016 Jun 15;25(12):2578-2587. [Content Brief]

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