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  1. 学術雑誌論文
  2. その他
  1. 部局別インデックス
  2. 医学部

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

http://hdl.handle.net/20.500.12000/45639
http://hdl.handle.net/20.500.12000/45639
a83464f5-61d5-4bf8-b281-fa0dd92ab95f
名前 / ファイル ライセンス アクション
journal.pone.0181791.pdf journal.pone.0181791.pdf
Item type デフォルトアイテムタイプ(フル)(1)
公開日 2020-04-15
タイトル
タイトル Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
言語 en
作成者 Hayashi, Shin

× Hayashi, Shin

en Hayashi, Shin

Uehara, Daniela Tiaki

× Uehara, Daniela Tiaki

en Uehara, Daniela Tiaki

Tanimoto, Kousuke

× Tanimoto, Kousuke

en Tanimoto, Kousuke

Mizuno, Seiji

× Mizuno, Seiji

en Mizuno, Seiji

Chinen, Yasutsugu

× Chinen, Yasutsugu

en Chinen, Yasutsugu

Fukumura, Shinobu

× Fukumura, Shinobu

en Fukumura, Shinobu

Takanashi, Jun-ichi

× Takanashi, Jun-ichi

en Takanashi, Jun-ichi

Osaka, Hitoshi

× Osaka, Hitoshi

en Osaka, Hitoshi

Okamoto, Nobuhiko

× Okamoto, Nobuhiko

en Okamoto, Nobuhiko

Inazawa, Johji

× Inazawa, Johji

en Inazawa, Johji

アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
権利情報
言語 en
権利情報 Creative Commons Attribution License 4.0
言語 en
権利情報Resource https://creativecommons.org/licenses/by/4.0/
権利情報 https://creativecommons.org/licenses/by/4.0/
内容記述
内容記述タイプ Other
内容記述 The CASK gene (Xp11.4) is highly expressed in the mammalian nervous system and plays several roles in neural development and synaptic function. Loss-of-function mutations of CASK are associated with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH), especially in females. Here, we present a comprehensive investigation of 41 MICPCH patients, analyzed by mutational search of CASK and screening of candidate genes using an SNP array, targeted resequencing and whole-exome sequencing (WES). In total, we identified causative or candidate genomic aberrations in 37 of the 41 cases (90.2%). CASK aberrations including a rare mosaic mutation in a male patient, were found in 32 cases, and a mutation in ITPR1, another known gene in which mutations are causative for MICPCH, was found in one case. We also found aberrations involving genes other than CASK, such as HDAC2, MARCKS, and possibly HS3ST5, which may be associated with MICPCH. Moreover, the targeted resequencing screening detected heterozygous variants in RELN in two cases, of uncertain pathogenicity, and WES analysis suggested that concurrent mutations of both DYNC1H1 and DCTN1 in one case could lead to MICPCH. Our results not only identified the etiology of MICPCH in nearly all the investigated patients but also suggest that MICPCH is a genetically heterogeneous condition, in which CASK inactivating mutations appear to account for the majority of cases.
内容記述タイプ Other
内容記述 論文
出版者
言語 en
出版者 Public Library of Science
言語
言語 eng
資源タイプ
資源タイプ journal article
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
識別子
識別子 http://hdl.handle.net/20.500.12000/45639
識別子タイプ HDL
関連情報
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1371/journal.pone.0181791
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1371/journal.pone.0181791
収録物識別子
収録物識別子タイプ ISSN
収録物識別子 1932-6203
収録物名
言語 en
収録物名 PLOS ONE
書誌情報
巻 12, 号 8
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