| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2021-05-01 |
| タイトル |
|
|
タイトル |
POLR3A variants in striatal involvement without diffuse hypomyelination |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
主題 |
POLR3A |
| キーワード |
|
|
主題 |
POLR3-related leukodystrophy |
| キーワード |
|
|
主題 |
4H leukodystrophy |
| キーワード |
|
|
主題 |
striatal involvement |
| キーワード |
|
|
主題 |
whole-exome sequencing |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 著者 |
Hiraide, Takuya
Kubota, Kazuo
Kono, Yu
Watanabe, Seiji
Matsubayashi, Tomoko
Nakashima, Mitsuko
Kaname, Tadashi
Fukao, Toshiyuki
Shimozawa, Nobuyuki
Ogata, Tsutomu
Saitsu, Hirotomo
|
| 書誌情報 |
Brain and Development
巻 42,
号 4,
p. 363-368,
発行日 2020-04
|
| 出版者 |
|
|
出版者 |
Elsevier |
| 権利 |
|
|
権利情報 |
Copyright 2019. This manuscript version is made available under the CC-BY-NC-ND 4.0 license https://creativecommons.org/licenses/by-nc-nd/4.0/. |
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
Background: Biallelic variants in POLR3A encoding the largest subunit of RNA polymerase III cause POLR3-related (or 4H) leukodystrophy characterized by neurologic dysfunction, abnormal dentition, endocrine abnormalities and ocular abnormality. Recently, whole-exome sequencing enabled the discovery of POLR3A variants in cases lacking diffuse hypomyelination, the principal MRI phenotype of POLR3-related leukodystrophy. Homozygous c.1771-6C>G variants in POLR3A were recently suggested to cause striatal and red nucleus involvement without white matter involvement.
Case report: Here, we report three cases in two families with biallelic POLR3A variants. We identified two sets of compound heterozygous variants in POLR3A, c.1771-6C>G and c.791C>T, p.(Pro264Leu) for family 1 and c.1771-6C>G and c.2671C>T, p.(Arg891*) for family 2. Both families had the c.1771-6C>G variant, which led to aberrant mRNA splicing. Neuropsychiatric regression and severe intellectual disability were identified in three patients. Two cases showed dystonia and oligodontia. Notably, characteristic bilateral symmetric atrophy and abnormal signal of the striatum without diffuse white matter signal change were observed in brain MRI of all three individuals.
Conclusions: Striatum abnormalities may be another distinctive MRI finding associated with POLR3A variants, especially in cases including c.1771-6C>G variants and our cases can expand the phenotypic spectrum of POLR3A-related disorders. |
| ISSN |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
0387-7604 |
| EISSN |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
1872-7131 |
| PubMed番号 |
|
|
関連タイプ |
isVersionOf |
|
|
識別子タイプ |
PMID |
|
|
関連識別子 |
31932101 |
| 出版社DOI |
|
|
関連タイプ |
isVersionOf |
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
10.1016/j.braindev.2019.12.012 |
| 著者版フラグ |
|
|
出版タイプ |
AM |
|
出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
Brain Dev-42-363.pdf (788.4 kB)
.png)
