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TBCE and the Hypoparathyroidism-Retardation- Dysmorphism (HRD) Syndrome 

TBCE and the Hypoparathyroidism-Retardation- Dysmorphism (HRD) Syndrome
Chapter:
TBCE and the Hypoparathyroidism-Retardation- Dysmorphism (HRD) Syndrome
Author(s):

George A. Diaz

, Ruti Parvari

, Eli Hershkovitz

, and Monica Sentmanat

DOI:
10.1093/med/9780199934522.003.0165
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date: 04 March 2021

Mutations in a tubulin-specific chaperone, TBCE, which encodes tubulin cofactor E, cause the syndrome of hypoparathyroidism, retardation, and dysmorphism [HRD; also known as Sanjad–Sakati or autosomal recessive Kenny–Caffey syndrome (KCS)]. Tubulin cofactors are essential for the biogenesis of native tubulin heterodimers, the basic unit of microtubules. On the basis of its established role in tubulin biogenesis, loss of TBCE function should be lethal, but mutation of the gene results instead in a pleiotropic disorder of growth failure, parathyroid gland aplasia, and neurological disease. In contrast, mutations in genes important for the regulation of microtubule growth primarily cause neurological diseases. The HRD disease phenotype is more global than predicted by the established role of the cofactor in tubulin biogenesis and highlights the existence of novel TBCE functions in the organization and regulation of the microtubule cytoskeleton.

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