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

MARTÍN, MARIANO; BERNAL BARQUERO, CARLOS EDUARDO; GEYSELS, ROMINA CELESTE; PAPENDIECK, PATRICIA; PEYRET, VICTORIA; MASINI-REPISO, ANA MARÍA; CHIESA, ANA ELENA; NICOLA, JUAN PABLO

THYROID

MARY ANN LIEBERT INC

Lugar: New York; Año: 2019 vol. 29 p. 1023 - 1023

1050-7256

odide transport defect (ITD) is an autosomal recessive disorder caused by deficient iodide accumulation into the thyroid follicular cell. ITD is an uncommon cause of dyshormonogenetic congenital hypothyroidism that results from inactivating mutations in the sodium/iodide symporter (NIS)-coding SLC5A5 gene. NIS is a key basolateral plasma membrane glycoprotein that efficiently mediates active iodide uptake in the thyroid-constituting the first step in the biosynthesis of the iodine-containing thyroid hormones-and other tissues, including salivary glands, lactating breast, and small intestine. The proposita, a 20-day-old female born in 1992, was diagnosed with congenital hypothyroidism through newborn screening. ITD was suspected on the basis of nondetectable radioiodide accumulation in a normally located nongoitrous thyroid gland, as well as in salivary glands. Sanger sequencing revealed nonpreviously reported compound heterozygous missense SLC5A5 gene variants (c.991G>A, p.D331N and c