Article
The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.
The Journal of clinical endocrinology and metabolism - 1 Aug 2009
Pardo Viviane, Vono-Toniolo Jussara, Rubio Ileana G S, Knobel Meyer, Possato Roberta F, Targovnik Hector M, Kopp Peter, Medeiros-Neto Geraldo
Abstract excerpt
CONTEXT: Thyroglobulin (TG) is a large glycoprotein and functions as a matrix for thyroid hormone synthesis. TG gene mutations give rise to goitrous congenital hypothyroidism (CH) with considerable phenotype variation. OBJECTIVES: The aim of the study was to report the genetic screening of 15 patients with CH due to TG gene mutations and to perform functional analysis of the p.A2215D mutation. DESIGN: Clinical...
Topics
- Adult
- Cells, Cultured
- Child
- Child, Preschool
- Congenital Hypothyroidism
- Female
- Humans
- Immunohistochemistry
- Male
- Microscopy, Electron
- Mutation
- Phenotype
- RNA, Messenger