A Mutation in the Thyroid Hormone Receptor Alpha Gene

Today in the New England Journal of Medicine online, a study was published which describes the finding of a genetic cause of hypothyroidism.  The effects of thyroid hormones manifest through their two different types of receptors: alpha and beta.  This article considers a case study of a young girl whose hypothyroidism is caused by a nonsense mutation in genes encoding her alpha receptors rather than by abnormal levels of hormone production.  The study used whole-exome sequencing to find this heterozygous genotype coding for a protein which inhibits the receptor. The article includes images and graphs showing the phenotypic traits and abnormalities manifested in this case by a mutation in receptor rather than hormone production.