A Novel p.E311K Mutation of Thyroid Receptor Beta Gene in Resistance to Thyroid Hormone Syndrome, Inherited in Autosomal Recessive Trait
Hormone and Metabolic Research, 06/14/2012
Slezak R et al. – This is a very rare case of a homozygous mutation in a patient with severe symptoms of Resistance to thyroid hormone (RTH) and lack of symptoms in both heterozygous parents. Although, computational analyses have provided the evidence that p.E311K substitution may affect THRB function, lack of dominant negative effect typical for THRB mutations could not be explained by structure–based modeling. Further in vitro analysis is required to assess the functional consequences of this substitution.