Searchable abstracts of presentations at key conferences in endocrinology

ea0034oc4.3 | Thyroid and bone | SFEBES2014

TRα mutation causes a severe and thyroxine-resistant skeletal dysplasia

Bassett J H Duncan , Boyde Alan , Zikmund Tomas , Evans Holly , Croucher Peter I , Zhu Xuguang , Park Jeong Won , Cheng Sheue-yann , Williams Graham R

A new genetic disorder has recently been identified that results from mutation of THRA, encoding thyroid hormone receptor α1 (TRα1). Affected children have a high serum T3:T4 ratio, constipation and a variable intellectual deficit, but exhibit a consistently severe skeletal dysplasia. Similar to these patients, Thra1PV/+ mice harbour a mutation that disrupts the C-terminal α-helix of TRα1 and express a domi...