Novel Sodium/Iodide Symporter Compound Heterozygous Pathogenic Variants Causing Dyshormonogenic Congenital Hypothyroidism

MARTIN, M; BERNAL BARQUERO, CE; GEYSELS, RC; PAPENDIECK, P; PEYRET, V; MASINI-REPISO, AM; CHIESA, AE; NICOLA, JP

THYROID

MARY ANN LIEBERT INC

Año: 2019

1050-7256

p class="MsoNormal" style="margin-bottom: 0.0001pt; text-align: justify; line-height: 200%;">Background:Iodide transport defect (ITD) is an autosomal recessive disorder caused by deficientiodide accumulation into the thyroid follicular cell. ITD is an uncommon causeof dyshormonogenetic congenital hypothyroidism that results from inactivatingmutations in the sodium/iodide symporter (NIS)-coding SLC5A5 gene. NIS is a key basolateral plasma membrane glycoproteinthat efficiently mediates active iodide uptake in the thyroid?constituting thefirst step in the biosynthesis of the iodine-containing thyroid hormones?andother tissues, including salivary glands, lactating breast, and smallintestine.