Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.

von Elsner, Leonie; Chai, Guoliang; Schneeberger, Pauline E; Harms, Frederike L; Casar, Christian; Qi, Minyue; Alawi, Malik; Abdel-Salam, Ghada M H; Zaki, Maha S; Arndt, Florian; Yang, Xiaoxu; Stanley, Valentina; Hempel, Maja; Gleeson, Joseph G; Kutsche, Kerstin

von Elsner, Leonie; Chai, Guoliang; Schneeberger, Pauline E; Harms, Frederike L; Casar, Christian; Qi, Minyue; Alawi, Malik; Abdel-Salam, Ghada M H; Zaki, Maha S; Arndt, Florian; Yang, Xiaoxu; Stanley, Valentina; Hempel, Maja; Gleeson, Joseph G; Kutsche, Kerstin.

Afiliación

von Elsner L; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Chai G; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Schneeberger PE; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA.
Harms FL; Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.
Casar C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Qi M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Abdel-Salam GMH; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Zaki MS; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Arndt F; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
Yang X; Centre of Excellence for Human Genetics, National Research Centre, Cairo 12311, Egypt.
Stanley V; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
Hempel M; Centre of Excellence for Human Genetics, National Research Centre, Cairo 12311, Egypt.
Gleeson JG; Department for Pediatric Cardiology, University Heart & Vascular Center Hamburg, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Kutsche K; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.

Brain ; 145(4): 1551-1563, 2022 05 24.

Article en En | MEDLINE | ID: mdl-34694367

Asunto(s)

Trastornos del Crecimiento; Discapacidad Intelectual; Microcefalia; Trastornos del Neurodesarrollo; Proteínas Nucleares; Proteínas de Unión al ADN/genética; Trastornos del Crecimiento/genética; Humanos; Discapacidad Intelectual/genética; Proteínas de la Membrana/genética; Microcefalia/genética; Trastornos del Neurodesarrollo/genética; Proteínas Nucleares/genética; Sitios de Empalme de ARN; Proteínas de Unión al ARN/genética; Proteínas Represoras/genética

Palabras clave

exome sequencing; homozygous; intellectual disability; major spliceosome; splicing

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Nucleares / Trastornos del Neurodesarrollo / Trastornos del Crecimiento / Discapacidad Intelectual / Microcefalia Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Brain Año: 2022 Tipo del documento: Article País de afiliación: Alemania

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