NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease

被引：12
|
作者：
Barrientos, Laura [1 ,2 ]
Maiolini, Arianna [3 ]
Haeni, Annakatrin [3 ]
Jagannathan, Vidhya [1 ]
Leeb, Tosso [1 ]
机构：
[1] Univ Bern, Vetsuisse Fac, Inst Genet, CH-3001 Bern, Switzerland
[2] Univ Nacl La Plata, Fac Ciencias Vet, Inst Genet Vet IGEVET, CCT La Plata,CONICET, RA-1900 La Plata, Buenos Aires, Argentina
[3] Univ Bern, Vetsuisse Fac, Dept Clin Vet Med, Div Clin Neurol, CH-3001 Bern, Switzerland
来源：
ANIMAL GENETICS | 2019年 / 50卷 / 01期
关键词：
D O I：
10.1111/age.12756
中图分类号：
S8 [畜牧、 动物医学、狩猎、蚕、蜂];
学科分类号：
0905 ;
摘要：
引用
收藏
页码：118 / 119
页数：2
相关论文
共 50 条
  • [1] NHLRC1 dodecamer expansion in a Welsh Corgi (Pembroke) with Lafora disease
    Kehl, Alexandra
    Cizinauskas, Sigitas
    Langbein-Detsch, Ines
    Mueller, Elisabeth
    [J]. ANIMAL GENETICS, 2019, 50 (04) : 413 - 414
  • [2] NHLRC1 homozygous dodecamer expansion in a Newfoundland dog with Lafora disease
    Mari, L.
    Comero, G.
    Mueller, E.
    Kuehnlein, P.
    Kehl, A.
    [J]. JOURNAL OF SMALL ANIMAL PRACTICE, 2021, 62 (11) : 1030 - 1032
  • [3] NHLRC1 repeat expansion in two beagles with Lafora disease
    Hajek, I.
    Kettner, F.
    Simerdova, V.
    Rusbridge, C.
    Wang, P.
    Minassian, B. A.
    Palus, V.
    [J]. JOURNAL OF SMALL ANIMAL PRACTICE, 2016, 57 (11) : 650 - 652
  • [4] A recurrent homozygous NHLRC1 variant in siblings with Lafora disease
    Araya, Nami
    Takahashi, Yukitoshi
    Shimono, Masayuki
    Fukuda, Tomofumi
    Kato, Mitsuhiro
    Nakashima, Mitsuko
    Matsumoto, Naomichi
    Saitsu, Hirotomo
    [J]. HUMAN GENOME VARIATION, 2018, 5
  • [5] Compound heterozygosity for novel variations of the NHLRC1 Gene in a family with Lafora disease
    Tang, Xinghua
    Li, Xinjuan
    Chen, Yuncan
    Wu, Dongyan
    [J]. CLINICAL NEUROLOGY AND NEUROSURGERY, 2022, 218
  • [6] Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population
    Shweta Singh
    Toshimitsu Suzuki
    Akira Uchiyama
    Satoko Kumada
    Nobuko Moriyama
    Shinichi Hirose
    Yukitoshi Takahashi
    Hideo Sugie
    Koichi Mizoguchi
    Yushi Inoue
    Kazue Kimura
    Yukio Sawaishi
    Kazuhiro Yamakawa
    Subramaniam Ganesh
    [J]. Journal of Human Genetics, 2005, 50 : 347 - 352
  • [7] Mutations in NHLRC1 gene are predominant cause of Lafora disease in Serbian population
    Kecmanovic, M.
    Jovic, N.
    Keckarevic-Markovic, M.
    Dobricic, V.
    Keckarevic, D.
    Ignjatovic, P.
    Romac, S.
    [J]. JOURNAL OF NEUROLOGY, 2008, 255 : 102 - 103
  • [8] Lafora disease: Severe phenotype associated with homozygous deletion of the NHLRC1 gene
    Kecmanovic, Miljana
    Jovic, Nebojsa
    Cukic, Mirjana
    Keckarevic-Markovic, Milica
    Keckarevic, Dusan
    Stevanovic, Galina
    Romac, Stanka
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 2013, 325 (1-2) : 170 - 173
  • [9] Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population
    Singh, S
    Suzuki, T
    Uchiyama, A
    Kumada, S
    Moriyama, N
    Hirose, S
    Takahashi, Y
    Sugie, H
    Mizoguchi, K
    Inoue, Y
    Kimura, K
    Sawaishi, Y
    Yamakawa, K
    Ganesh, S
    [J]. JOURNAL OF HUMAN GENETICS, 2005, 50 (07) : 347 - 352
  • [10] Rapidly Progressive Phenotype of Lafora Disease Associated With a Novel NHLRC1 Mutation
    Brackmann, Florian A.
    Kiefer, Alexander
    Agaimy, Abbas
    Gencik, Martin
    Trollmann, Regina
    [J]. PEDIATRIC NEUROLOGY, 2011, 44 (06) : 475 - 477
12345