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

• Published in: Neurogenetics Vol. 22; no. 4; pp. 343 - 346
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01-10-2021; Springer Nature B.V
• Subjects: Biomedical and Life Sciences; Biomedicine; Brain - pathology; Child; Chromosome deletion; Female; Females; Gene deletion; Gene expression; Human Genetics; Humans; Mental Retardation, X-Linked - diagnosis; Mental Retardation, X-Linked - genetics; Mental Retardation, X-Linked - pathology; Molecular Medicine; Monocarboxylic Acid Transporters - genetics; Muscle Hypotonia - diagnosis; Muscle Hypotonia - genetics; Muscle Hypotonia - pathology; Muscular Atrophy - diagnosis; Muscular Atrophy - genetics; Muscular Atrophy - pathology; Mutation - genetics; Neurology; Neurosciences; Phenotype; Phenotypes; Short Communication; Symporters - genetics; Thyroid gland; Thyroid hormones; X Chromosome Inactivation - genetics; X chromosomes; Xist gene; Allan-Herndon-Dudley syndrome; X chromosome inactivation; JPX; FTX; SLC16A2
• ISSN: 1364-6745; 1364-6753
• DOI: 10.1007/s10048-021-00660-7

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.