Cleft palate, cardiac defects, and mental retardation

Definition:

Cleft palate, cardiac defects, and mental retardation (CPCMR) is characterized by atrial or ventricular septal defects, cleft palate, and variable developmental delays and intellectual disability. It has been reported that deletions in MEIS2 can cause this disease. MEIS2 is a homeodomain-containing transcription factor of the TALE superfamily that has been proven important for development.

References:

[1]. Ganka Douglas, et al. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features. Am J Med Genet A. 2018 Sep;176(9):1845-1851. [Content Brief]

[2]. Jacoba J Louw, et al. MEIS2 involvement in cardiac development, cleft palate, and intellectual disability. Am J Med Genet A. 2015 May;167A(5):1142-6. [Content Brief]

[3]. Stefan Johansson, et al. Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. Am J Med Genet A. 2014 Jul;164A(7):1622-6. [Content Brief]

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