Autor(en)
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
Titel
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center
Teil von
  • Neurogenetics, 2021-10-01, Vol.22 (4), p.343-346
Ort / Verlag
Springer
Links zum Volltext
Quelle
Springer Online Journals Complete
Beschreibungen
Keywords: Allan-Herndon-Dudley syndrome; SLC16A2; X chromosome inactivation; JPX; FTX 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. Author Affiliation: (1) Genetics Department, 12 de Octubre University Hospital, Madrid, Spain (2) UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain (3) Pediatrics Department, Endocrinology Unit, 12 de Octubre University Hospital, Madrid, Spain (4) Cancer Research Network (CIBERONC), 28029, Madrid, Spain (5) Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and Fundació Clínic Per La Recerca Biomèdica, Barcelona, Spain (6) Pediatrics Department, Neurology Unit, 12 de Octubre University Hospital, Madrid, Spain (7) Internal Medicine Department, 12 de Octubre University Hospital, Madrid, Spain (8) Department of Genetics, IIS-Fundación Jiménez Díaz UAM, CIBERER, Madrid, Spain (9) Instituto de Medicina Genómica (IMEGEN), Paterna, Valencia, Spain (a) juanf.quesada@salud.madrid.org (b) lucia.garzon@salud.madrid.org Article History: Registration Date: 07/15/2021 Received Date: 04/03/2021 Accepted Date: 07/15/2021 Online Date: 07/23/2021 Byline:
Format
Sprache(n)
Englisch
Identifikator(en)
ISSN: 1364-6745
ISSN: 1364-6753
DOI: 10.1007/s10048-021-00660-7
Links zum Inhalt
Schlagwörter
Anopheles, Gene expression, Genes, Medical research, Medicine, Experimental, Molecular genetics, Thyroid hormones
Systemstelle
Signatur

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