Biallelic mutations in UGDH cause congenital microcephaly

被引：1
|
作者：
Shu, Li [1 ,2 ,3 ,4 ,5 ]
Xie, Guangyao [1 ]
Mei, Daoqi [6 ]
Xu, Rui [7 ]
Liu, Shixian [8 ]
Xiao, Bo [9 ]
Li, Xing [10 ]
Xie, Yuanyuan [9 ]
Mao, Xiao [1 ,11 ,12 ]
Wang, Hua [13 ]
机构：
[1] Hunan Prov Maternal & Child Hlth Care Hosp, Natl Hlth Commiss Key Lab Birth Defect Res & Prev, Changsha 410005, Hunan, Peoples R China
[2] Univ Calgary, Cumming Sch Med, Dept Biochem, Calgary, AB T2N 4N1, Canada
[3] Univ Calgary, Cumming Sch Med, Dept Mol Biol, Calgary, AB T2N 4N1, Canada
[4] Univ Calgary, Cumming Sch Med, Dept Med Genet, Calgary, AB T2N 4N1, Canada
[5] Univ Calgary, Alberta Childrens Hosp, Res Inst, Calgary, AB T2N 4N1, Canada
[6] Zhengzhou Univ, Dept Neurol, Childrens Hosp, Zhengzhou 450018, Henan, Peoples R China
[7] Xinjiang Med Univ, Sch Basic Med Sci, Dept Cell Biol & Genet, Urumqi 830054, Xinjiang, Peoples R China
[8] Ganzhou Women & Childrens Hlth Care Hosp, Dept Pediat Neurol & Rehabil, Ganzhou 341000, Jiangxi, Peoples R China
[9] Xiangya Hosp, Dept Neurol, Changsha 410005, Hunan, Peoples R China
[10] Guangxi Med Univ, Dept Pediat, Affiliated Hosp 1, Nanning 530021, Guangxi, Peoples R China
[11] Hunan Prov Maternal & Child Hlth Care Hosp, Dept Med Genet, Changsha 410005, Hunan, Peoples R China
[12] Hunan Prov Maternal & Child Hlth Care Hosp, Clin Res Ctr Placental Med Hunan Prov, Changsha 410005, Hunan, Peoples R China
[13] Hunan Childrens Hosp, Dept Med Genet, Changsha 410007, Hunan, Peoples R China
来源：
GENES & DISEASES | 2023年 / 10卷 / 05期
关键词：
GENE;
D O I：
10.1016/j.gendis.2022.12.007
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
[No abstract available]
引用
收藏
页码：1816 / 1819
页数：4
相关论文
共 50 条
  • [1] UGDH Variants Cause Congenital Muscular Dystrophy with Hypoglycosylation of α-Dystroglycan
    Reelfs, A. M.
    Stephan, C. M.
    Czech, T. M.
    Cox, M.
    Joseph, S.
    Darbro, B.
    Moore, S.
    Campbell, K.
    Mathews, K.
    ANNALS OF NEUROLOGY, 2025, 96 : S128 - S128
  • [2] Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation
    Carvalhal, Sara
    Bader, Ingrid
    Rooimans, Martin A.
    Oostra, Anneke B.
    Balk, Jesper A.
    Feichtinger, Rene G.
    Beichler, Christine
    Speicher, Michael R.
    van Hagen, Johanna M.
    Waisfisz, Quinten
    van Haelst, Mieke
    Bruijn, Martijn
    Tavares, Alexandra
    Mayr, Johannes A.
    Wolthuis, Rob M. F.
    Oliveira, Raquel A.
    de Lange, Job
    SCIENCE ADVANCES, 2022, 8 (03)
  • [3] Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation
    Ng, Bobby G.
    Xu, Gege
    Chandy, Nandini
    Steyermark, Joan
    Shinde, Deepali N.
    Radtke, Kelly
    Raymond, Kimiyo
    Lebrilla, Carlito B.
    AlAsmari, Ali
    Suchy, Sharon F.
    Powis, Zoe
    Faqeih, Eissa Ali
    Berry, Susan A.
    Kronn, David F.
    Freeze, Hudson H.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2018, 102 (01) : 188 - 195
  • [4] Biallelic variants in KIF14 cause intellectual disability with microcephaly
    Periklis Makrythanasis
    Reza Maroofian
    Asbjørg Stray-Pedersen
    Damir Musaev
    Maha S. Zaki
    Iman G. Mahmoud
    Laila Selim
    Amera Elbadawy
    Shalini N. Jhangiani
    Zeynep H. Coban Akdemir
    Tomasz Gambin
    Hanne S. Sorte
    Arvid Heiberg
    Jennifer McEvoy-Venneri
    Kiely N. James
    Valentina Stanley
    Denice Belandres
    Michel Guipponi
    Federico A. Santoni
    Najmeh Ahangari
    Fatemeh Tara
    Mohammad Doosti
    Justyna Iwaszkiewicz
    Vincent Zoete
    Paul Hoff Backe
    Hanan Hamamy
    Joseph G. Gleeson
    James R. Lupski
    Ehsan Ghayoor Karimiani
    Stylianos E. Antonarakis
    European Journal of Human Genetics, 2018, 26 : 330 - 339
  • [5] Biallelic variants in KIF14 cause intellectual disability with microcephaly
    Makrythanasis, Periklis
    Maroofian, Reza
    Stray-Pedersen, Asbjorg
    Musaev, Damir
    Zaki, Maha S.
    Mahmoud, Iman G.
    Selim, Laila
    Elbadawy, Amera
    Jhangiani, Shalini N.
    Akdemir, Zeynep H. Coban
    Gambin, Tomasz
    Sorte, Hanne S.
    Heiberg, Arvid
    McEvoy-Venneri, Jennifer
    James, Kiely N.
    Stanley, Valentina
    Belandres, Denice
    Guipponi, Michel
    Santoni, Federico A.
    Ahangari, Najmeh
    Tara, Fatemeh
    Doosti, Mohammad
    Iwaszkiewicz, Justyna
    Zoete, Vincent
    Backe, Paul Hoff
    Hamamy, Hanan
    Gleeson, Joseph G.
    Lupski, James R.
    Karimiani, Ehsan Ghayoor
    Antonarakis, Stylianos E.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 (03) : 330 - 339
  • [6] Biallelic Mutations in ACACA Cause a Disruption in Lipid Homeostasis That Is Associated With Global Developmental Delay, Microcephaly, and Dysmorphic Facial Features
    Lou, Xiaoting
    Zhou, Xiyue
    Li, Haiyan
    Lu, Xiangpeng
    Bao, Xinzhu
    Yang, Kaiqiang
    Liao, Xin
    Chen, Hanxiao
    Fang, Hezhi
    Yang, Yanling
    Lyu, Jianxin
    Zheng, Hong
    FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2021, 9
  • [7] Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome
    Dyment, D. A.
    Gibson, W. T.
    Huang, L.
    Bassyouni, H.
    Hegele, R. A.
    Innes, A. M.
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2014, 57 (09) : 524 - 526
  • [8] Congenital mutations in the WDR4 gene cause severe microcephaly associated with genome instability
    Ogi, Tomoo
    GENES & GENETIC SYSTEMS, 2016, 91 (06) : 319 - 319
  • [9] Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy
    Marafi, Dana
    Mitani, Tadahiro
    Isikay, Sedat
    Hertecant, Jozef
    Almannai, Mohammed
    Manickam, Kandamurugu
    Abou Jamra, Rami
    El-Hattab, Ayman W.
    Rajah, Jaishen
    Fatih, Jawid M.
    Du, Haowei
    Karaca, Ender
    Bayram, Yavuz
    Punetha, Jaya
    Rosenfeld, Jill A.
    Jhangiani, Shalini N.
    Boerwinkle, Eric
    Akdemir, Zeynep C.
    Erdin, Serkan
    Hunter, Jill, V
    Gibbs, Richard A.
    Pehlivan, Davut
    Posey, Jennifer E.
    Lupski, James R.
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2020, 7 (05): : 610 - 627
  • [10] Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly
    Li, Hongda
    Bielas, Stephanie L.
    Zaki, Maha S.
    Ismail, Samira
    Farfara, Dorit
    Um, Kyongmi
    Rosti, Rasim O.
    Scott, Eric C.
    Tu, Shu
    Chi, Neil C.
    Gabriel, Stacey
    Erson-Omay, Emine Z.
    Ercan-Sencicek, A. Gulhan
    Yasuno, Katsuhito
    Caglayan, Ahmet Okay
    Kaymakcalan, Hande
    Ekici, Baris
    Bilguvar, Kaya
    Gunel, Murat
    Gleeson, Joseph G.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (02) : 501 - 510
12345