論文

査読有り
2017年8月

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts

Clinical genetics
  • Iwama, Kazuhiro
  • ,
  • Mizuguchi, Takeshi
  • ,
  • Takanashi, Jun-Ichi
  • ,
  • Shibayama, Hidehiro
  • ,
  • Shichiji, Minobu
  • ,
  • Ito, Susumu
  • ,
  • Oguni, Hirokazu
  • ,
  • Yamamoto, Toshiyuki
  • ,
  • Sekine, Akiko
  • ,
  • Nagamine, Shun
  • ,
  • Ikeda, Yoshio
  • ,
  • Nishida, Hiroya
  • ,
  • Kumada, Satoko
  • ,
  • Yoshida, Takeshi
  • ,
  • Awaya, Tomonari
  • ,
  • Tanaka, Ryuta
  • ,
  • Chikuchi, Ryo
  • ,
  • Niwa, Hisayoshi
  • ,
  • Oka, Yu-Ichi
  • ,
  • Miyatake, Satoko
  • ,
  • Nakashima, Mitsuko
  • ,
  • Takata, Atsushi
  • ,
  • Miyake, Noriko
  • ,
  • Ito, Shuichi
  • ,
  • Saitsu, Hirotomo
  • ,
  • Matsumoto, Naomichi

92
2
開始ページ
180
終了ページ
187
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1111/cge.12991
出版者・発行元
WILEY

[BACKGROUND] Leukoencephalopathy with brain calcifications and cysts (LCC) is neuroradiologically characterized by leukoencephalopathy, intracranial calcification, and cysts. Coats plus syndrome is also characterized by the same neuroradiological findings together with defects in retinal vascular development. Indeed, LCC and Coats plus were originally considered to be the same clinical entity termed cerebroretinal microangiopathy with calcifications and cysts, but evidence suggests that they are genetically distinct. Mutations in CTS telomere maintenance complex component 1 (CTC1) and small nucleolar RNA, C/D box 118 (SNORD118) genes have been found to cause Coats plus and LCC, respectively.
[MATERIALS AND METHODS] Eight unrelated families with LCC were recruited. These patients typically showed major neuroradiological findings of LCC with no signs of extra-neurological manifestations such as retinal abnormality, gastrointestinal bleeding, or hematological abnormalities. SNORD118 was examined by Sanger sequencing in these families.
[RESULTS] Seven out of eight probands carry compound heterozygous mutations, suggesting that SNORD118 mutations are the major cause of LCC. We identifie

リンク情報
DOI
https://doi.org/10.1111/cge.12991