Short stature, developmental delay, congenital heart defect

Definition:

Short stature, developmental delay, congenital heart defect (SDDHD) is an autosomal recessive syndrome caused by mutations in TKT, that encodes transketolase. Transketolase is a thiamine-dependent enzyme in the pentose phosphate pathway. Transketolase deficiency reduces NADPH synthesis and nucleic acid synthesis and cell division and could explain the problems with growth.

References:

[1]. Lia Boyle, et al. Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects. Am J Hum Genet. 2016 Jun 2;98(6):1235-1242. [Content Brief]

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