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ID 115134
タイトル別表記
Novel COL11A1 mutation in familial Stickler syndrome
著者
Kohmoto, Tomohiro Tokushima University
Tsuji, Atsumi Tokyo Medical and Dental University
Morita, Kei-ichi Tokyo Medical and Dental University
Kashimada, Kenichi Tokyo Medical and Dental University
Enomoto, Keisuke Tokyo Medical and Dental University
Morio, Tomohiro Tokyo Medical and Dental University
Harada, Hiroyuki Tokyo Medical and Dental University
資料タイプ
学術雑誌論文
抄録
Stickler syndrome (STL) is an autosomal, dominantly inherited, clinically variable and genetically heterogeneous connective tissue disorder characterized by ocular, auditory, orofacial and skeletal abnormalities. We conducted targeted resequencing using a next-generation sequencer for molecular diagnosis of a 2-year-old girl who was clinically suspected of having STL with Pierre Robin sequence. We detected a novel heterozygous missense mutation, NM_001854.3:n.4838G>A [NM_001854.3 (COL11A1_v001):c.4520G>A], in COL11A1, resulting in a Gly to Asp substitution at position 1507 [NM_001854.3(COL11A1_i001)] within one of the collagen-like domains of the triple helical region. The same mutation was detected in her 4-year-old brother with cleft palate and high-frequency sensorineural hearing loss.
掲載誌名
Human Genome Variation
ISSN
2054345X
出版者
Springer Nature
3
開始ページ
16003
発行日
2016-04-07
権利情報
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
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言語
eng
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部局
医学系