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 par...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.展开更多
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)+4 种基金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).
文摘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.
