Whole exome sequencing in Dandy-Walker variant with intellectual disability reveals an activating CIP2A mutation as novel genetic cause.

Yang, Chin-An; Chou, I-Ching; Cho, Der-Yang; Lin, Chien-Yu; Huang, Hsi-Yuan; Ho, Yu-Chen; Liu, Ting-Yuan; Li, Ying-Hsuan; Chang, Jan-Gowth

Yang, Chin-An; Chou, I-Ching; Cho, Der-Yang; Lin, Chien-Yu; Huang, Hsi-Yuan; Ho, Yu-Chen; Liu, Ting-Yuan; Li, Ying-Hsuan; Chang, Jan-Gowth.

Afiliación

Yang CA; Department of Laboratory Medicine, China Medical University Hospital, #2 Yude Road, Taichung, 40447, Taiwan, Republic of China.
Chou IC; Division of General Pediatrics, Children's Hospital of China Medical University, Taichung, Taiwan.
Cho DY; College of Medicine, China Medical University, Taichung, Taiwan.
Lin CY; Center for Precision Medicine, China Medical University Hospital, Taichung, Taiwan.
Huang HY; Division of Pediatric Neurology, Children's Hospital of China Medical University, Taichung, Taiwan.
Ho YC; Department of Neurosurgery, China Medical University Hospital, Taichung, Taiwan.
Liu TY; Department of Laboratory Medicine, China Medical University Hospital, #2 Yude Road, Taichung, 40447, Taiwan, Republic of China.
Li YH; Department of Laboratory Medicine, China Medical University Hospital, #2 Yude Road, Taichung, 40447, Taiwan, Republic of China.
Chang JG; College of Medicine, China Medical University, Taichung, Taiwan.

Neurogenetics ; 19(3): 157-163, 2018 08.

Article en En | MEDLINE | ID: mdl-29846820

Asunto(s)

Autoantígenos/genética; Síndrome de Dandy-Walker/genética; Discapacidad Intelectual/genética; Proteínas de la Membrana/genética; Mutación Missense; Adolescente; Sustitución de Aminoácidos; Síndrome de Dandy-Walker/sangre; Síndrome de Dandy-Walker/complicaciones; Femenino; Humanos; Discapacidad Intelectual/sangre; Discapacidad Intelectual/complicaciones; Péptidos y Proteínas de Señalización Intracelular; Leucocitos Mononucleares/metabolismo; Masculino; Linaje; Proteínas Proto-Oncogénicas c-myc/sangre; Proteínas Proto-Oncogénicas c-myc/metabolismo; Hermanos; Serina-Treonina Quinasas TOR/sangre; Serina-Treonina Quinasas TOR/metabolismo; Secuenciación del Exoma; Adulto Joven

Palabras clave

CIP2A; Dandy-Walker malformation; Intellectual disability; mTOR

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Autoantígenos / Mutación Missense / Síndrome de Dandy-Walker / Proteínas de la Membrana / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2018 Tipo del documento: Article País de afiliación: China

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