PMID- 34388596
OWN - NLM
STAT- MEDLINE
DCOM- 20220127
LR  - 20221207
IS  - 1872-6968 (Electronic)
IS  - 0303-8467 (Linking)
VI  - 208
DP  - 2021 Sep
TI  - Whole-exome sequencing and human leukocyte antigen analysis in familial 
      myasthenia gravis with thymoma: Case report and literature review.
PG  - 106864
LID - S0303-8467(21)00393-0 [pii]
LID - 10.1016/j.clineuro.2021.106864 [doi]
AB  - Myasthenia gravis (MG) is an autoimmune disease characterized by impaired 
      neurotransmission at the neuromuscular junction. MG is generally non-inherited 
      but is rarely inherited. Here, we report two patients with MG in the same 
      pedigree: a 62-year-old Japanese man and his 46-year-old daughter who were 
      positive for anti-acetylcholine receptor antibodies and had thymoma. We performed 
      whole-exome sequencing (WES) and human leukocyte antigen (HLA) analyses to 
      investigate the genetic contribution to familial onset. WES analysis of both 
      patients showed no known variations in candidate genes for familial MG, and HLA 
      analysis failed to detect HLA haplotypes seen in early-onset and late-onset MG. 
      These findings suggest the presence of an unknown genetic background. Previous 
      genetic studies on familial MG have identified ENOX1 and IFNGR1 as candidate 
      genes in patients without thymoma, whereas no studies have identified candidate 
      genes in patients with thymoma. To explore causative genes, it may be necessary 
      to consider whether the genetic background differs between patients with and 
      without thymoma in familial autoimmune MG.
CI  - Copyright (c) 2021 Elsevier B.V. All rights reserved.
FAU - Nakamura, Yoshitsugu
AU  - Nakamura Y
AD  - Department of Internal Medicine IV, Division of Neurology, Osaka Medical and 
      Pharmaceutical University Faculty of Medicine, 2-7 Daigaku-machi, Takatsuki, 
      Osaka 569-8686, Japan. Electronic address: yoshitsugu.nakamura@ompu.ac.jp.
FAU - Sato, Hidenori
AU  - Sato H
AD  - Genome Informatics Unit, Institution for Promotion of Medical Science Research, 
      Yamagata University Faculty of Medicine, 2-2 Iida-Nishi, Yamagata 990-9585, 
      Japan. Electronic address: h-satoh@med.id.yamagata-u.ac.jp.
FAU - Miyano, Yuki
AU  - Miyano Y
AD  - Genome Informatics Unit, Institution for Promotion of Medical Science Research, 
      Yamagata University Faculty of Medicine, 2-2 Iida-Nishi, Yamagata 990-9585, 
      Japan. Electronic address: zeku380@med.id.yamagata-u.ac.jp.
FAU - Murakami, Ryoko
AU  - Murakami R
AD  - Genome Informatics Unit, Institution for Promotion of Medical Science Research, 
      Yamagata University Faculty of Medicine, 2-2 Iida-Nishi, Yamagata 990-9585, 
      Japan. Electronic address: ryoko_murakami@med.id.yamagata-u.ac.jp.
FAU - Motoki, Mikiko
AU  - Motoki M
AD  - Department of Internal Medicine IV, Division of Neurology, Osaka Medical and 
      Pharmaceutical University Faculty of Medicine, 2-7 Daigaku-machi, Takatsuki, 
      Osaka 569-8686, Japan. Electronic address: mikiko.motoki@ompu.ac.jp.
FAU - Shigekiyo, Taro
AU  - Shigekiyo T
AD  - Department of Internal Medicine IV, Division of Neurology, Osaka Medical and 
      Pharmaceutical University Faculty of Medicine, 2-7 Daigaku-machi, Takatsuki, 
      Osaka 569-8686, Japan. Electronic address: taro.shigekiyo@ompu.ac.jp.
FAU - Sugino, Masakazu
AU  - Sugino M
AD  - Division of Neurology, Aino Hospital, 11-18 Takadacho, Ibaraki, Osaka 567-0011, 
      Japan. Electronic address: m-sugino@aino-hp.koshokai.or.jp.
FAU - Arawaka, Shigeki
AU  - Arawaka S
AD  - Department of Internal Medicine IV, Division of Neurology, Osaka Medical and 
      Pharmaceutical University Faculty of Medicine, 2-7 Daigaku-machi, Takatsuki, 
      Osaka 569-8686, Japan. Electronic address: shigeki.arawaka@ompu.ac.jp.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
DEP - 20210803
PL  - Netherlands
TA  - Clin Neurol Neurosurg
JT  - Clinical neurology and neurosurgery
JID - 7502039
RN  - 0 (Autoantibodies)
RN  - 0 (HLA Antigens)
RN  - 0 (Receptors, Cholinergic)
SB  - IM
MH  - Autoantibodies
MH  - Female
MH  - HLA Antigens/*genetics
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Myasthenia Gravis/*genetics/immunology/pathology
MH  - Pedigree
MH  - Receptors, Cholinergic/immunology
MH  - Thymoma/*genetics/immunology/pathology
MH  - Thymus Neoplasms/*genetics/immunology/pathology
MH  - Exome Sequencing
OTO - NOTNLM
OT  - Familial myasthenia gravis
OT  - Human leukocyte antigen
OT  - Thymoma
OT  - Whole-exome sequencing
EDAT- 2021/08/14 06:00
MHDA- 2022/01/28 06:00
CRDT- 2021/08/13 20:18
PHST- 2021/02/20 00:00 [received]
PHST- 2021/07/17 00:00 [revised]
PHST- 2021/07/30 00:00 [accepted]
PHST- 2021/08/14 06:00 [pubmed]
PHST- 2022/01/28 06:00 [medline]
PHST- 2021/08/13 20:18 [entrez]
AID - S0303-8467(21)00393-0 [pii]
AID - 10.1016/j.clineuro.2021.106864 [doi]
PST - ppublish
SO  - Clin Neurol Neurosurg. 2021 Sep;208:106864. doi: 10.1016/j.clineuro.2021.106864. 
      Epub 2021 Aug 3.