Exome-first approach identified a novel gloss deletion associated with Lowe syndrome

• Watanabe, Miki

• Nakagawa, Ryuji

• Kohmoto, Tomohiro

• Naruto, Takuya

• Suga, Ken-ichi

• Goji, Aya

• Horikawa, Hideaki

• Masuda, Kiyoshi

• Kagami, Shoji

• Imoto, Issei

書誌事項

タイトル別名

• Lowe syndrome caused by gloss deletion

抄録

Lowe syndrome (LS) is an X-linked disorder affecting the eyes, nervous system and kidneys, typically caused by missense or nonsense/frameshift OCRL mutations. We report a 6-month-old male clinically suspected to have LS, but without the Fanconi-type renal dysfunction. Using a targeted-exome sequencing-first approach, LS was diagnosed by the identification of a deletion involving 1.7 Mb at Xq25-q26.1, encompassing the entire OCRL gene and neighboring loci.

収録刊行物

• Human Genome Variation

  Human Genome Variation 3 16037-, 2016-11-10

  Springer Nature

詳細情報

• CRID: 1050568617201896576
• NII論文ID: 120006955875
• ISSN: 2054345X
• Web Site: http://repo.lib.tokushima-u.ac.jp/115131
• 本文言語コード: en
• 資料種別: journal article
• データソース種別:
  • IRDB
  • CiNii Articles