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ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.
Bian, Yue; Qiao, Chong; Zheng, ShuGuang; Qiu, Hao; Li, Huan; Zhang, ZhiTao; Yin, ShaoWei; Jiang, HongKun; Li-Ling, Jesse; Liu, CaiXia; Lyu, Yuan.
Afiliación
  • Bian Y; Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang, China.
  • Qiao C; Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Key Laboratory of Obstetrics and Gynecology of Higher Education of Liaoning Province, Research Center of China Medical University Birth Cohort, Shenyang, China.
  • Zheng S; Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang, China.
  • Qiu H; Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Key Laboratory of Obstetrics and Gynecology of Higher Education of Liaoning Province, Research Center of China Medical University Birth Cohort, Shenyang, China.
  • Li H; Department of Radiology, The People's Hospital of China Medical University, Shenyang, China.
  • Zhang Z; Dian Diagnostics Group Co., LTD., Hangzhou, China.
  • Yin S; Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang, China.
  • Jiang H; Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang, China.
  • Li-Ling J; Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang, China.
  • Liu C; Department of Pediatrics, The First Affiliated Hospital of China Medical University, Shenyang, China.
  • Lyu Y; Jinxin Research Institute of Reproductive Medicine and Genetics, Jinjiang Maternal and Children's Health Care Hospital, Chengdu, China.
J Hum Genet ; 65(12): 1129-1134, 2020 Dec.
Article en En | MEDLINE | ID: mdl-32655146
ABSTRACT
Congenital disorders of glycosylation (CDG) are a group of genetic, mostly multisystem disorders, which often involve the central nervous system. ALG3-CDG is one the some 130 known CDG. Here we report two siblings with a severe phenotype and intrauterine death. Whole-exome sequencing revealed two novel variants in ALG3 NM_005787.6c.512G>T (p.Arg171Leu) inherited from the mother and NM_005787.6c.511C>T (p.Arg171Trp) inherited from the father.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sistema Nervioso Central / Trastornos Congénitos de Glicosilación / Genes Letales / Manosiltransferasas Límite: Female / Humans / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: China
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sistema Nervioso Central / Trastornos Congénitos de Glicosilación / Genes Letales / Manosiltransferasas Límite: Female / Humans / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: China