Identification of two aberrant transcripts by RNA sequencing for a novel variant c.3354 + 5 G > A of MED12 in a Chinese girl with non-syndromic intellectual disability.

Zhi, Xiufang; Pu, Linjie; Wu, Bo; Cui, Yaqiong; Yu, Changshun; Dong, Yan; Li, Dong; Cai, Chunquan

Identification of two aberrant transcripts by RNA sequencing for a novel variant c.3354 + 5 G > A of MED12 in a Chinese girl with non-syndromic intellectual disability.

Zhi, Xiufang; Pu, Linjie; Wu, Bo; Cui, Yaqiong; Yu, Changshun; Dong, Yan; Li, Dong; Cai, Chunquan.

Afiliação

Zhi X; Graduate College of Tianjin Medical University, No. 22 Qixiangtai Road, Heping District, Tianjin 300070, China; Tianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin 300134, China.
Pu L; Graduate College of Tianjin Medical University, No. 22 Qixiangtai Road, Heping District, Tianjin 300070, China; Tianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin 300134, China.
Wu B; Tianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Department of Neurology, Tianjin Children's Hospital, No. 238 Longyan Road, eichen District, Tianjin 300134, China.
Cui Y; Tianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Tianjin Pediatric Research Institute, No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Tianjin Key Laboratory of Birth Defects for Prevention and Trea
Yu C; Tianjin Kingmed Center for Clinical Laboratory Co. Ltd, Haitai Huake 5th Rd, Huayuan Industrial Park, High Tech Zone, Xiqing District, Tianjin 300392, China.
Dong Y; Graduate College of Tianjin Medical University, No. 22 Qixiangtai Road, Heping District, Tianjin 300070, China; Tianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin 300134, China.
Li D; Tianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Department of Neurology, Tianjin Children's Hospital, No. 238 Longyan Road, eichen District, Tianjin 300134, China. Electronic address: lidongtjetyy@163.com.
Cai C; Tianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Tianjin Pediatric Research Institute, No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Tianjin Key Laboratory of Birth Defects for Prevention and Trea

Clin Chim Acta ; 532: 137-144, 2022 Jul 01.

Article em En | MEDLINE | ID: mdl-35690084

Assuntos

Deficiência Intelectual; China; Feminino; Humanos; Deficiência Intelectual/genética; Deficiência Intelectual/patologia; Complexo Mediador/genética; Complexo Mediador/metabolismo; Análise de Sequência de RNA; Sequenciamento do Exoma

Palavras-chave

MED12 gene; Multiple transcripts; Non-syndromic intellectual disability; Splicing variant; X-chromosome inactivation

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiência Intelectual Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiência Intelectual Idioma: En Ano de publicação: 2022 Tipo de documento: Article