CLINICAL CASE SEMINAR Extending the Clinical Heterogeneity of Iodide Transport Defect (ITD): A Novel Mutation R124H of the Sodium/Iodide Symporter Gene and Review of Genotype- Phenotype Correlations in ITD
نویسندگان
چکیده
Pediatric Endocrine Unit, and Institut National de la Santé et de la Recherche Médicale, Equipe mixte INSERM 0363, Hôpital Necker Enfants-Malades (G.S., M.P.), 75743 Paris, France; Departments of Clinical Genetics and Medical Ethics, Kyoto University Graduate School of Medicine (S.K.), Kyoto 606-8501, Japan; Department of Endocrinology and Diabetes, Molecular Laboratory, Centre Hospitalier Universitaire (C.D., V.D.), 35043 Rennes, France; and Pediatric Endocrine and Diabetes Unit, Hôpital Robert Debré (N.L., P.C.), 75019 Paris, France
منابع مشابه
Iodide Transport Defect and Breast Milk Iodine
Background: Iodide transport defect (ITD) is a dyshormonogenetic congenital hypothyroidism caused by sodium/iodide symporter (NIS) gene mutations. In the lactating mammary gland, iodide is concentrated by NIS, and iodine for thyroid hormone synthesis is thereby supplied to the infant in the breast milk. Case Description: A 34-year-old Japanese woman was diagnosed with ITD caused by a homozygous...
متن کاملThe iodide-transport-defect-causing mutation R124H: a d-amino group at position 124 is critical for maturation and trafficking of the Na/I symporter
Na/I symporter (NIS)-mediated active accumulation of I in thyrocytes is a key step in the biosynthesis of the iodine-containing thyroid hormones T3 and T4. Several NIS mutants have been identified as a cause of congenital I 2 transport defect (ITD), and their investigation has yielded valuable mechanistic information on NIS. Here we report novel findings derived from the thorough characterizati...
متن کاملCongenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect
Loss-of-function mutations of the PAX8 gene are considered to mainly cause congenital hypothyroidism (CH) due to thyroid hypoplasia. However, some patients with PAX8 mutation have demonstrated a normal-sized thyroid gland. Here we report a CH patient caused by a PAX8 mutation, which manifested as iodide transport defect (ITD). Hypothyroidism was detected by neonatal screening and L-thyroxine re...
متن کاملIodide Transport Defect and Breast Milk Iodine.
BACKGROUND Iodide transport defect (ITD) is a dyshormonogenetic congenital hypothyroidism caused by sodium/iodide symporter (NIS) gene mutations. In the lactating mammary gland, iodide is concentrated by NIS, and iodine for thyroid hormone synthesis is thereby supplied to the infant in the breast milk. CASE DESCRIPTION A 34-year-old Japanese woman was diagnosed with ITD caused by a homozygous...
متن کاملThe iodide-transport-defect-causing mutation R124H: a δ-amino group at position 124 is critical for maturation and trafficking of the Na+/I- symporter.
Na(+)/I(-) symporter (NIS)-mediated active accumulation of I(-) in thyrocytes is a key step in the biosynthesis of the iodine-containing thyroid hormones T3 and T4. Several NIS mutants have been identified as a cause of congenital I(-) transport defect (ITD), and their investigation has yielded valuable mechanistic information on NIS. Here we report novel findings derived from the thorough char...
متن کامل