STAMBP gene mutation causing microcephaly-capillary malformation syndrome: a recognizable developmental and epileptic encephalopathy

被引:3
|
作者
Anand, Vaishakh [1 ,2 ]
Aggarwal, Bhawana [3 ]
Jauhari, Prashant [2 ]
Kumar, Manoj [4 ]
Gupta, Neerja [3 ]
Kumar, Atin [5 ]
Gulati, Sheffali [2 ]
Kabra, Madhulika [3 ]
机构
[1] Amrita Inst Med Sci, Dept Pediat Neurol, Kochi, Kerala, India
[2] All India Inst Med Sci, Child Neurol Div, Dept Pediat, New Delhi, India
[3] All India Inst Med Sci, Div Med Genet, Dept Pediat, New Delhi, India
[4] All India Inst Med Sci, Dept Biophys, New Delhi, India
[5] All India Inst Med Sci, Dept Radiodiag, New Delhi, India
关键词
BROTHERS; AMSH;
D O I
10.1684/epd.2021.1411
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:602 / 605
页数:4
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共 36 条
  • [1] Microcephaly-Capillary Malformation Syndrome: Brothers with a Homozygous STAMBP Mutation, Uncovered by Exome Sequencing
    Naseer, Muhammad Imran
    Sogaty, Sameera
    Rasool, Mahmood
    Chaudhary, Adeel G.
    Abutalib, Yousif Ahmed
    Walker, Susan
    Marshall, Christian R.
    Merico, Daniele
    Carter, Melissa T.
    Scherer, Stephen W.
    Al-Qahtani, Mohammad H.
    Zarrei, Mehdi
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (11) : 3018 - 3022
  • [2] A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome
    Hori, Ikumi
    Miya, Fuyuki
    Negishi, Yutaka
    Hattori, Ayako
    Ando, Naoki
    Boroevich, Keith A.
    Okamoto, Nobuhiko
    Kato, Mitsuhiro
    Tsunoda, Tatsuhiko
    Yamasaki, Mami
    Kanemura, Yonehiro
    Kosaki, Kenjiro
    Saitoh, Shinji
    [J]. JOURNAL OF HUMAN GENETICS, 2018, 63 (09) : 957 - 963
  • [3] A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome
    Ikumi Hori
    Fuyuki Miya
    Yutaka Negishi
    Ayako Hattori
    Naoki Ando
    Keith A. Boroevich
    Nobuhiko Okamoto
    Mitsuhiro Kato
    Tatsuhiko Tsunoda
    Mami Yamasaki
    Yonehiro Kanemura
    Kenjiro Kosaki
    Shinji Saitoh
    [J]. Journal of Human Genetics, 2018, 63 : 957 - 963
  • [4] Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome
    McDonell, Laura M.
    Mirzaa, Ghayda M.
    Alcantara, Diana
    Schwartzentruber, Jeremy
    Carter, Melissa T.
    Lee, Leo J.
    Clericuzio, Carol L.
    Graham, John M., Jr.
    Morris-Rosendahl, Deborah J.
    Polster, Tilman
    Acsadi, Gyula
    Townshend, Sharron
    Williams, Simon
    Halbert, Anne
    Isidor, Bertrand
    David, Albert
    Smyser, Christopher D.
    Paciorkowski, Alex R.
    Willing, Marcia
    Woulfe, John
    Das, Soma
    Beaulieu, Chandree L.
    Marcadier, Janet
    Geraghty, Michael T.
    Frey, Brendan J.
    Majewski, Jacek
    Bulman, Dennis E.
    Dobyns, William B.
    O'Driscoll, Mark
    Boycott, Kym M.
    [J]. NATURE GENETICS, 2013, 45 (05) : 556 - U136
  • [5] Microcephaly-Capillary Malformation Syndrome
    Pratico, Andrea D.
    Polizzi, Agata
    Garozzo, Maria Teresa
    Pirrone, Concetta
    Zanghi, Antonio
    Salafia, Stefania
    Pratico, Elena R.
    Sullo, Federica
    La Mendola, Flavia
    Ruggieri, Martino
    Resta, Nicoletta
    [J]. JOURNAL OF PEDIATRIC NEUROLOGY, 2018, 16 (05) : 319 - 327
  • [6] The Microcephaly-Capillary Malformation Syndrome
    Mirzaa, Ghayda M.
    Paciorkowski, Alex R.
    Smyser, Christopher D.
    Willing, Marcia C.
    Lind, Anne C.
    Dobyns, William B.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (09) : 2080 - 2087
  • [7] MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME
    Shchagina, O. A.
    Semenova, N. A.
    Bessonova, L. A.
    Larshina, E. A.
    Beskorovainiy, N. S.
    Zakharova, E. Yu
    Ryzhkova, O. P.
    Poliakov, A., V
    [J]. BULLETIN OF RUSSIAN STATE MEDICAL UNIVERSITY, 2020, (03): : 31 - 37
  • [8] Early-onset epilepsy and microcephaly-capillary malformation syndrome caused by a novel STAMBP mutation in a Chinese boy
    Wu, Fangrui
    Dai, Ying
    Wang, Juan
    Cheng, Min
    Wang, Yanqin
    Li, Xiujuan
    Yuan, Ping
    Liao, Shuang
    Jiang, Li
    Chen, Jin
    Yan, Lisi
    Zhong, Min
    [J]. MOLECULAR MEDICINE REPORTS, 2019, 20 (06) : 5145 - 5151
  • [9] Microcephaly-Capillary Malformation Syndrome: A Story of Rapid Emergence of a New Recognizable Entity
    Carter, Melissa T.
    Boycott, Kym M.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (09) : 2078 - 2079
  • [10] Novel STAMBP mutations in a Chinese girl with rare symptoms of microcephaly-capillary malformation syndrome and Mowat-Wilson syndrome
    Wang, Hui
    Wang, Zhan
    Ji, Taoyun
    Tai, Jun
    Jiang, Qian
    [J]. HELIYON, 2023, 9 (12)