The first patients with a pathogenic variant in the TBL1Xgene were identified in 2016. An X-linked recessive inheritance pattern associated with an incomplete penetrance was observed. The phenotype consists of moderate to mild central hypothyroidism in hemizygous males, and mild central hypothyroidism to euthyroidism in heterozygous female. Mild to moderate sensorineural hearing loss has been reported in many mutation carriers, likely due to shared roles of TBL1X in cochlear development or function.
TBL1X