A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report.

Y WatanabeE SharwoodB GoodwinM K CreechH Y HassanM G NeteaM JaegerA DumitrescuS RefetoffT HuynhRoy E Weiss

Published in: BMC medical genetics (2018)

A novel rare missense mutation in the TG gene was identified. The ChEL domain is critical for protein folding and patients with CH due to misfolded TG may present without low serum TG despite the TG gene mutations.

Keyphrases

copy number
intellectual disability
binding protein
smoking cessation
genome wide analysis