Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.

Renard, Dimitri; Taieb, Guillaume; Garibaldi, Matteo; Maues De Paula, Andre; Bernard, Rafaelle; Lagha, Nadira; Cristofari, Gael; Vovan, Catherine; Chaix, Charlène; Lévy, Nicolas; Khau Van Kien, Philippe; Sacconi, Sabrina

Renard, Dimitri; Taieb, Guillaume; Garibaldi, Matteo; Maues De Paula, Andre; Bernard, Rafaelle; Lagha, Nadira; Cristofari, Gael; Vovan, Catherine; Chaix, Charlène; Lévy, Nicolas; Khau Van Kien, Philippe; Sacconi, Sabrina.

Afiliación

Renard D; Department of Neurology, CHU Nîmes, Hôpital Caremeau, Nîmes, France.
Taieb G; Department of Neurology, CHU Nîmes, Hôpital Caremeau, Nîmes, France.
Garibaldi M; Peripheral Nervous System, Muscle and ALS Department, Nice University Hospital, Université Côte d'Azur, Nice, France.
Maues De Paula A; Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy.
Bernard R; Neuropathology Laboratory, Faculty of Medicine of Marseille, Assistance Publique-Hôpitaux de Marseille, La Timone Hospital, Marseille, France.
Lagha N; Medical Genetic Department, Assistance Publique-Hôpitaux de Marseille, La Timone Hospital; Aix-Marseille University, Marseille, France.
Cristofari G; INSERM GMGF UMR_S910, Marseille, France.
Vovan C; Faculty of Medicine, Institute for Research on Cancer and Aging of Nice (IRCAN), INSERM U1081, CNRS UMR 7284, Université Côte d'Azur (UCA), Nice, France.
Chaix C; Faculty of Medicine, Institute for Research on Cancer and Aging of Nice (IRCAN), INSERM U1081, CNRS UMR 7284, Université Côte d'Azur (UCA), Nice, France.
Lévy N; University Hospital Federation (FHU) OncoAge, CHU-Nice, University of Nice Sophia Antipolis, Nice, France.
Khau Van Kien P; Medical Genetic Department, Assistance Publique-Hôpitaux de Marseille, La Timone Hospital; Aix-Marseille University, Marseille, France.
Sacconi S; Medical Genetic Department, Assistance Publique-Hôpitaux de Marseille, La Timone Hospital; Aix-Marseille University, Marseille, France.

Am J Med Genet A ; 176(8): 1760-1763, 2018 08.

Article en En | MEDLINE | ID: mdl-30055030

ABSTRACT

ABSTRACT

Facioscapulohumeral muscular dystrophy (FSHD) has been shown to be related to genetic and epigenetic derepression of DUX4 (mapping to chromosome 4), a gene located within a repeat array of D4Z4 sequences of polymorphic length. FSHD type 1 (FSHD1) is associated with pathogenic D4Z4 repeat array contraction, while FSHD type 2 (FSHD2) is associated with SMCHD1 variants (a chromatin modifier gene that maps to the short arm of chromosome 18). Both FSHD types require permissive polyadenylation signal (4qA) downstream of the D4Z4 array.

Asunto(s)

Proteínas Cromosómicas no Histona/genética; Trastornos de los Cromosomas/genética; Discapacidad Intelectual/genética; Distrofia Muscular Facioescapulohumeral/genética; Adolescente; Biopsia; Cromatina/genética; Deleción Cromosómica; Trastornos de los Cromosomas/fisiopatología; Cromosomas Humanos Par 18/genética; Epigenómica; Mutación con Ganancia de Función/genética; Proteínas de Homeodominio/genética; Humanos; Discapacidad Intelectual/diagnóstico; Discapacidad Intelectual/fisiopatología; Masculino; Distrofia Muscular Facioescapulohumeral/clasificación; Distrofia Muscular Facioescapulohumeral/patología; Señales de Poliadenilación de ARN 3'/genética

Palabras clave

18p deletion syndrome; MRI; facioscapulohumeral muscular dystrophy type 2; hypomethylation; inflammatory; muscle biopsy

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Cromosómicas no Histona / Distrofia Muscular Facioescapulohumeral / Trastornos de los Cromosomas / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Límite: Adolescent / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Francia

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