Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

Chen, Li; Jensik, Philip J; Alaimo, Joseph T; Walkiewicz, Magdalena; Berger, Seth; Roeder, Elizabeth; Faqeih, Eissa A; Bernstein, Jonathan A; Smith, Ann C M; Mullegama, Sureni V; Saffen, David W; Elsea, Sarah H

Chen, Li; Jensik, Philip J; Alaimo, Joseph T; Walkiewicz, Magdalena; Berger, Seth; Roeder, Elizabeth; Faqeih, Eissa A; Bernstein, Jonathan A; Smith, Ann C M; Mullegama, Sureni V; Saffen, David W; Elsea, Sarah H.

Afiliación

Chen L; Department of Cellular and Genetic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai, China.
Jensik PJ; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, Illinois.
Alaimo JT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Walkiewicz M; Baylor Genetics Laboratory, Houston, Texas.
Berger S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Roeder E; Baylor Genetics Laboratory, Houston, Texas.
Faqeih EA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Bernstein JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Smith ACM; Departments of Pediatrics, Baylor College of Medicine, San Antonio, Texas.
Mullegama SV; Department of Pediatrics Subspecialty, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Saffen DW; Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
Elsea SH; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Hum Mutat ; 38(12): 1774-1785, 2017 12.

Article en En | MEDLINE | ID: mdl-28940898

Asunto(s)

Exoma/genética; Discapacidad Intelectual/genética; Trastornos del Neurodesarrollo/genética; Proteínas Nucleares/genética; Secuencia de Aminoácidos; Estudios de Cohortes; Proteínas de Unión al ADN; Humanos; Mutación; Proteínas Nucleares/metabolismo; Fenotipo; Regiones Promotoras Genéticas/genética; Alineación de Secuencia; Factores de Transcripción/genética; Factores de Transcripción/metabolismo; Secuenciación Completa del Genoma

Palabras clave

SAND; clinical exome sequencing (CES); deformed epidermal autoregulatory factor-1 (DEAF1)-associated neurodevelopmental disorder (DAND); intellectual disability (ID); nuclear localization signal (NLS)

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Nucleares / Exoma / Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: China

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