OBJECTIVE: To extend the molecular analysis of the @entity70528 intronic @entity3745 (TG) mutation, and to report the eleven year follow-up of the affected @entity1 . METHOSD: Two siblings with severe @entity6750 with fetal and @entity5651 , harboring the @entity70528 mutation were included. Nodular and non-nodular thyroid tissue specimens were collected. Specific thyroid genes expression was evaluated by real-timePCR and by immunohistochemistry. RESULTS: In non-nodular tissue specific thyroid genes mRNA were reduced when compared to normal thyroid sample. In the nodule, @entity5787 and NIS expression was very low. Microscopic examinations showed very large follicular-lumina and swollen vesicles of endoplasmatic-reticulum. Strong cytoplasmatic and low follicular-lumen TG immunostaining were detected. Intracellular NIS, membrane @entity5787 and @entity5010 immunostaining had higher positivity in non-nodular sample. Both @entity1 had a long-term adequate developmental outcome, besides one @entity1 have been lately-treated. CONCLUSIONS: @entity70528 mutation not only lead to very enlarge endoplasmatic-reticulum, but also to alterations of specific thyroid genes expression. The clinical evolution of @entity1 harboring these mutations strengthen the concept of the influence of environment, like @entity1496 nutrition, to determine the final phenotypic appearance.

A molecular analysis and long-term follow-up of two siblings with severe @entity6750 carrying the @entity70528 intronic XXXX mutation.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity1496 :: ('MESH:D007455', 'Chemical') :: ['iodine'] @entity5787 :: ('7173', 'Gene') :: ['TPO'] @entity5010 :: ('7253', 'Gene') :: ['TSHR'] @entity5651 :: ('MESH:D006042', 'Disease') :: ['neonatal goiter'] @entity3745 :: ('7038', 'Gene') :: ['thyroglobulin'] @entity6750 :: ('MESH:D003409', 'Disease') :: ['congenital hypothyroidism'] @entity70528 :: ('c|SUB|G|IVS30+1|T', 'DNAMutation') :: ['IVS30+1G>T']
@entity3745 :: (7038,Gene) :: ['thyroglobulin']
