Genetic condition awaiting consideration - Wolcott Rallison Syndrome
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin requiring diabetes associated with skeletal dysplasia and growth retardation.
WRS is now recognised as the most frequent cause of neonatal/early-onset diabetes in patients with consanguineous parents.
Typically, diabetes occurs before six months of age, and skeletal dysplasia is diagnosed within the first year or two of life. Other manifestations vary between patients in their nature and severity and include frequent episodes of acute liver failure, renal dysfunction, exocrine pancreas insufficiency, intellectual deficit, hypothyroidism, neutropenia and recurrent infections.
Bone fractures may be frequent. endoplasmic reticulum (ER) transmembrane protein, which plays a key role in translation control during the unfolded protein response.
Endoplasmic reticulum (ER) dysfunction is central to the disease.
Prognosis is poor and most patients die at a young age.
Have your say on conditions awaiting consideration
If you have any feedback on the genetic conditions awaiting consideration by the HFEA, send us an email and we will discuss your comments at the next Licence Committee.
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Page last updated: 09 November 2012