Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum.

@article{Padidela2009MutationIT,
  title={Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum.},
  author={Raja Padidela and Daniel Kelberman and Martin Press and M. Al-Khawari and Peter C Hindmarsh and Mehul Tulsidas Dattani},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2009},
  volume={94 8},
  pages={
          2686-91
        }
}
CONTEXT Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, an autosomal recessive disorder characterized by distinct clinical, biochemical, and genetic abnormalities, is characterized by severe short stature, the etiology of which is unclear. Homozygous mutation of the tubulin cofactor E (TBCE) gene leading to loss of four amino acids (c.155-166del12; p.del 52-55) in the TBCE protein has been associated with the syndrome. AIM The aim of the study was to describe the clinical… 

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References

SHOWING 1-10 OF 23 REFERENCES
Mutation of TBCE causes hypoparathyroidism– retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome
TLDR
It is demonstrated that HRD and AR-KCS are chaperone diseases caused by a genetic defect in the tubulin assembly pathway, and a potential connection between tubulin physiology and the development of the parathyroid is established.
Hypoparathyroidism, Retardation, and Dysmorphism Syndrome: Impaired Early Growth and Increased Susceptibility to Severe Infections Due to Hyposplenism and Impaired Polymorphonuclear Cell Functions
TLDR
The experience with a cohort of patients with HRD, analyze their growth, and evaluate patients' polymorphonuclear cell (PMN) functions was summarized and functional hyposplenism has been demonstrated in most of the studied patients.
A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.
TLDR
It is believed that this association of congenital hypoparathyroidism with severe growth failure and dysmorphism represents a new syndrome.
Congenital hypopituitarism: clinical, molecular and neuroradiological correlates
TLDR
The clinical phenotype of a large cohort of children with congenital hypopituitarism including septo‐optic dysplasia attending a single centre is related to the neuroradiological and genetic findings.
Short stature, mental retardation, and hypoparathyroidism: a new syndrome.
TLDR
Eight children with extreme failure to thrive, dysmorphic features, developmental delay, hypoparathyroidism, and abnormal skeletal survey were studied and it is believed that these children represent a new, as yet undescribed genetically determined syndrome.
Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies.
A 5 1/2-year-old Saudi Arabian girl presented with a syndrome of intrauterine growth retardation, minor anomalies, hypoparathyroidism, and growth hormone deficiency. She was the product of a
A missense mutation in Tbce causes progressive motor neuronopathy in mice
TLDR
Observations indicate that Tbce is critical for the maintenance of microtubules in mouse motor axons, and suggest that altered function of tubulin cofactors might be implicated in human motor neuron diseases.
Defective growth hormone secretion and hypogonadism in the new syndrome of congenital hypoparathyroidism, growth failure and dysmorphic features
TLDR
Endocrine evaluation after infancy revealed defective growth hormone (GH) secretion in 2 provocation tests and lack of clinical and testosterone response to human chorionic gonadotrophin (HCG) therapy.
Role of gonadotropin-releasing hormone and human chorionic gonadotropin stimulation tests in differentiating patients with hypogonadotropic hypogonadism from those with constitutional delay of growth and puberty.
TLDR
The data suggest that a GnRH test in combination with both a 3-d and 19-d HCG test may aid in differentiating between CDGP and HH, which are significantly lower in patients with HH compared with CDGP.
A New Mouse Mutant with Progressive Motor Neuronopathy
TLDR
The disease manifests itself in a dying-back fashion in the distal portion of the motor neurons and may represent an animal model of hereditary motor neuron diseases in man.
...
...