First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
Juan Francisco Quesada-EspinosaLucía Garzón-LorenzoJosé M Lezana-RosalesMaría J Gómez-RodríguezMaría T Sánchez-CalvinCarmen Palma-MillaIrene Gómez-ManjónIrene Hidalgo-MayoralRubén Pérez de la FuenteAna Arteche-LópezMaría I Álvarez-MoraAna Camacho-SalasJaime Cruz-RojoIrene Lázaro-RodríguezMontserrat Morales-ConejoNoemí Nuñez-EnamoradoAna Bustamante-AragonesRogelio Simón de Las HerasMaría A Gomez-CanoPatricia Ramos-GómezOllalla Sierra-TomilloAlexandra Juárez-RufiánJesús Gallego-MerloLaura Rausell-SánchezMarta Moreno-GarcíaJaime Sánchez Del PozoPublished in: Neurogenetics (2021)
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 543-kb deletion of the X chromosome. The deletion encompasses exon 1 of the SLC16A2 gene and JPX and FTX genes; it is known that the latter two genes participate in the X-inactivation process upregulating XIST gene expression. Subsequent studies in the patient demonstrated the preferential expression of the X chromosome with the JPX and FTX deletion.