A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy

被引：3
|
作者：
Valilou, Saeed Farajzadeh [1 ,2 ,3 ]
Hagh, Javad Karimzad [1 ,2 ,4 ]
Asl, Mohammad Salimi [1 ,2 ]
Rad, Isa Abdi [5 ]
Edizadeh, Masoud [6 ]
Pooladi, Arash [7 ,8 ]
机构：
[1] Sarem Womens Hosp, Dept Med Genet, Tehran, Iran
[2] Sarem Womens Hosp, Sarem Cell Res Ctr SCRC, Tehran, Iran
[3] Universal Sci Educ & Res Network USERN, Med Genet Network MeGeNe, Tehran, Iran
[4] Cuypers & Cuypers Fertil Ctr Heinsberger Hofe, IVF Ctr, Heinsberg, Germany
[5] Urmia Univ Med Sci, Sch Med, Dept Med Genet, Orumiyeh, Iran
[6] Lorestan Univ Med Sci, Sch Med, Biotechnol Dept, Khorramabad, Lorestan, Iran
[7] Kurdistan Univ Med Sci, Canc & Immunol Res Ctr, Res Inst Hlth Dev, Sanandaj, Iran
[8] Kurdistan Univ Med Sci, Fac Med, Dept Med Genet, Sanandaj, Iran
来源：
CLINICAL CASE REPORTS | 2021年 / 9卷 / 08期
关键词：
ataxia; laminopathy; LMNB2; progressive myoclonus epilepsies; whole-exome sequencing; NUCLEAR LAMINS; GENOME; PROLIFERATION; ORGANIZATION; CELLS; B1; B2;
D O I：
10.1002/ccr3.4520
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
The report of LMNB2-related progressive myoclonus epilepsy and ataxia due to missense homozygous c.473G>T variant.
引用
收藏
页数：7
相关论文
共 50 条
  • [21] Mutation of SCARB2 in a Patient With Progressive Myoclonus Epilepsy and Demyelinating Peripheral Neuropathy
    Dibbens, Leanne M.
    Karakis, Ioannis
    Bayly, Marta A.
    Costello, Daniel J.
    Cole, Andrew J.
    Berkovic, Samuel F.
    ARCHIVES OF NEUROLOGY, 2011, 68 (06) : 812 - 813
  • [22] Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia
    Farhan, Sali M. K.
    Murphy, Lisa M.
    Robinson, John F.
    Wang, Jian
    Siu, Victoria M.
    Rupar, C. Anthony
    Prasad, Asuri N.
    Hegele, Robert A.
    EPILEPSIA, 2014, 55 (09) : E106 - E111
  • [23] Novel progressive myoclonus epilepsy syndrome caused by a recurrent homozygous variant of SLC7A6OS
    Labalme, A.
    Mazzola, L.
    Muona, M.
    Baykan, B.
    Joensuu, T. H.
    Courage, C.
    Chatron, N.
    Borsani, G.
    Alix, E.
    Ramond, F.
    Touraine, R.
    Berkovic, S. F.
    Bebek, N.
    Lehesjoki, A.
    Lesca, G.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 414 - 414
  • [24] Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
    Hentrich, Lea
    Parnes, Mered
    Lotze, Timothy Edward
    Coorg, Rohini
    de Koning, Tom J.
    Nguyen, Kha M.
    Yip, Calvin K.
    Jungbluth, Heinz
    Koy, Anne
    Dafsari, Hormos Salimi
    GENES, 2023, 14 (10)
  • [25] A novel KCNA2 variant in a patient with cerebellar ataxia and epilepsy: functional characterization and sensitivity to 4-aminopyridine
    Imbrici, Paola
    Blunck, Rikard
    Conte, Elena
    Dinoi, Giorgia
    Liantonio, Antonella
    Brankovic, Vesna
    Zanni, Ginevra
    EPILEPSIA, 2021, 62 : 109 - 109
  • [26] A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene
    Algahtani, Hussein
    Al-Hakami, Fahad
    Al-Shehri, Mohammed
    Shirah, Bader
    Al-Qahtani, Mohammad H.
    Abdulkareem, Angham Abdulrahman
    Naseer, Muhammad Imran
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2019, 69 : 133 - 139
  • [27] A NEW FORM OF PROGRESSIVE MYOCLONUS EPILEPSY WITH EARLY ATAXIA AND SCOLIOSIS DUE TO MUTATION IN THE GOLGI PROTEIN GOSR2
    Berkovic, S. F.
    Corbett, M. A.
    Schwake, M.
    Bahlo, M.
    Dibbens, L. M.
    Lin, M.
    Gandolfo, L.
    Vears, D.
    O'Sullivan, J.
    Robertson, T.
    Bayly, M. A.
    Gardner, A. E.
    Vlaar, A. M.
    Korenke, G. C.
    Bloem, B. R.
    de Coo, I. F.
    Verhagen, J. M. A.
    Lehesjoki, A-E
    Saftig, P.
    Gecz, J.
    EPILEPSIA, 2011, 52 : 94 - 95
  • [28] A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia
    Corbett, Mark A.
    Schwake, Michael
    Bahlo, Melanie
    Dibbens, Leanne M.
    Lin, Meng
    Gandolfo, Luke C.
    Vears, Danya F.
    O'Sullivan, John D.
    Robertson, Thomas
    Bayly, Marta A.
    Gardner, Alison E.
    Vlaar, Annemarie M.
    Korenke, G. Christoph
    Bloem, Bastiaan R.
    de Coo, Irenaeus F.
    Verhagen, Judith M. A.
    Lehesjoki, Anna-Elina
    Gecz, Jozef
    Berkovic, Samuel F.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (05) : 657 - 663
  • [29] A biallelic GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia
    Breza, M.
    Bourinaris, T.
    Efthymiou, S.
    Maroofian, R.
    Athanasiou-Fragkouli, A.
    Tzartos, J.
    Velonakis, G.
    Karavasilis, E.
    Angelopoulou, G.
    Kasselimis, D.
    Potagas, C.
    Stefanis, L.
    Karadima, G.
    Koutsis, G.
    Houlden, H.
    EUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 : 957 - 957
  • [30] A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy
    Higashiyama, Yuichi
    Doi, Hiroshi
    Wakabayashi, Masatoshi
    Tsurusaki, Yoshinori
    Miyake, Noriko
    Saitsu, Hirotomo
    Ohba, Chihiro
    Fukai, Ryoko
    Miyatake, Satoko
    Joki, Hideto
    Koyano, Shigeru
    Suzuki, Yume
    Tanaka, Fumiaki
    Kuroiwa, Yoshiyuki
    Matsumoto, Naomichi
    MOVEMENT DISORDERS, 2013, 28 (04) : 552 - 553
12345