Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome

Definition:

Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS) is caused by a pathogenic CTBP1 missense mutation. CTBP1 is the transcriptional corepressor. The enzymatic constituents of the CTBP1 corepressor complex mediate coordinated histone modifications.

References:

[1]. David B Beck, et al. A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity. Neurogenetics. 2019 Aug;20(3):129-143. [Content Brief]

[2]. David B Beck, et al. A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. Neurogenetics. 2016 Jul;17(3):173-8. [Content Brief]

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