First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.

doi:10.1007/s10048-021-00660-7

Article

First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.

Neurogenetics - 1 Oct 2021

Quesada-Espinosa Juan F, Garzón-Lorenzo Lucía, Lezana-Rosales José M, Gómez-Rodríguez María J, Sánchez-Calvin María T, Palma-Milla Carmen, Gómez-Manjón Irene, Hidalgo-Mayoral Irene, Pérez de la Fuente Rubén, Arteche-López Ana, Álvarez-Mora María I, Camacho-Salas Ana, Cruz-Rojo Jaime, Lázaro-Rodríguez Irene, Morales-Conejo Montserrat, Nuñez-Enamorado Noemí, Bustamante-Aragones Ana, Simón de Las Heras Rogelio, Gomez-Cano María A, Ramos-Gómez Patricia, Sierra-Tomillo Ollalla, Juárez-Rufián Alexandra, Gallego-Merlo Jesús, Rausell-Sánchez Laura, Moreno-García Marta, Sánchez Del Pozo Jaime

Abstract excerpt

Allan-Herndon-Dudley is an X-linked recessive syndrome caused by pathogenic variants in the SLC16A2 gene. Clinical manifestations are a consequence of impaired thyroid metabolism and aberrant transport of thyroid hormones to the brain. Carrier females are generally asymptomatic and may show subtle symptoms of the disease. We describe a female with a complete Allan-Herndon-Dudley phenotype, carrying a de novo...

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First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.

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First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.

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