Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome

[Background] Temple syndrome (TS14) is a rare imprinting disorder caused by maternal UPD14, imprinting defects or paternal microdeletions which lead to an increase in the maternal expressed genes and a silencing the paternally expressed genes in the 14q32 imprinted domain. Classical TS14 phenotypic...

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Detalles Bibliográficos
Autores: Baena, Neus, Monk, David, Aguilera, Cinthia, Fraga, Mario F., Fernández, Agustín F., Gabau, Elisabeth, Corripio, Raquel, Capdevila, Nuria, Trujillo, Juan Pablo, Ruiz, Anna, Guitart, Miriam
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/366558
Acceso en línea:http://hdl.handle.net/10261/366558
Access Level:acceso abierto
Palabra clave:DLK1
DMR
Deletion
Methylation
Temple syndrome (TS14)
Descripción
Sumario:[Background] Temple syndrome (TS14) is a rare imprinting disorder caused by maternal UPD14, imprinting defects or paternal microdeletions which lead to an increase in the maternal expressed genes and a silencing the paternally expressed genes in the 14q32 imprinted domain. Classical TS14 phenotypic features include pre- and postnatal short stature, small hands and feet, muscular hypotonia, motor delay, feeding difficulties, weight gain, premature puberty along and precocious puberty.

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