Biallelic mutations in UGDH cause congenital microcephaly  

作　　者：Li Shu Guangyao Xie Daoqi Mei Rui Xu Shixian Liu Bo Xiao Xing Li Yuanyuan Xie Xiao Mao Hua Wang 

机构地区：[1]National Health Commission Key Laboratory for Birth Defect Research and Prevention,Hunan Provincial Maternal and Child Health Care Hospital,Changsha,Hunan 410005,China [2]Departments of Biochemistry,Molecular Biology and Medical Genetics,Cumming School of Medicine,University of Calgary,Calgary T2N 4N1,Canada [3]Alberta Children's Hospital Research Institute,University of Calgary,Calgary T2N 4N1,Canada [4]Department of Neurology,Children's Hospital Affiliated to Zhengzhou University,Zhengzhou,Henan 450018,China [5]Department of Cell Biology and Genetics,School of Basic Medical Science,Xinjiang Medical University,Urumqi,Xinjiang 830054,China [6]Department of Pediatric Neurological and Rehabilitation,Ganzhou Women and Children's Health Care Hospital,Ganzhou,Jiangxi 341000,China [7]Department of Neurology,Xiangya Hospital,Changsha,Hunan 410005,China [8]Department of Pediatrics,The First Affiliated Hospital of Guangxi Medical University,Nanning,Guangxi 530021,China [9]Department of Medical Genetics,Hunan Provincial Maternal and Child Health Care Hospital,Changsha,Hunan 410005,China [10]Clinical Research Center for Placental Medicine in Hunan Province,Hunan Provincial Maternal and Child Health Care Hospital,Changsha,Hunan 410005,China [11]Department of Medical Genetics,Hunan Children's Hospital,Changsha,Hunan 410007,China

出　　处：《Genes & Diseases》2023年第5期1816-1819,共4页基因与疾病（英文）

基　　金：supported by the Natural Science Foundation of Hunan Province,China(No.2021JJ40280);the National Key Research and Development Program of China(No.2021YFC1005300);the Major Scientific and Technological Projects for Collaborative Prevention and Control of Birth Defects in Hunan Province,China(No.2019SK1010,2019SK1014);the National Key R&D Program of China(No.2019YFC1005100);the Hunan Provincial Science and Technology Department(China)(No.2018SK2064);the Joint Construction Project of Henan Medical Science and Technology Project(China)(No.LHGJ20200618,2018020633);the Henan Engineering Research Center of Childhood Neurodevelopment Open Project(China)(No.SG201907).

摘　　要：Hengel et al recently reported that bi-allelic loss-of-function mutations in UDP-Glucose 6-Dehydrogenase(UGDH)caused a severe epileptic encephalopathy syndrome-Jamuar syndrome(OMIM#618792).1 The functional studies partially recapitulated the clinical phenotypes in the patient-derived cerebral organoid.A reduced number of proliferating neuronal progenitors in cerebral organoids was shown,which is a critical mechanism in congenital microcephaly(CM)whose patients were born with an occipitofrontal circumference(OCF)more than 2 standard deviations below average for age and sex.However,none of the reported patients in the article presented the phenotype as CM.

关 键 词：CONGENITAL CEREBRAL PATIENTS 

分 类 号：R74[医药卫生—神经病学与精神病学]