A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome
Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have ED...
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| Published in | Human genome variation Vol. 3; no. 1; p. 16030 |
|---|---|
| Main Authors | , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
London
Nature Publishing Group UK
15.09.2016
Springer Nature B.V Nature Publishing Group |
| Subjects | |
| Online Access | Get full text |
| ISSN | 2054-345X 2054-345X |
| DOI | 10.1038/hgv.2016.30 |
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| Abstract | Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutation in
COL5A2
[NM_000393.3(COL5A2_v001):c.682G>A, p.Gly228Arg]. |
|---|---|
| AbstractList | Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutation in
COL5A2
[NM_000393.3(COL5A2_v001):c.682G>A, p.Gly228Arg]. Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutation in COL5A2 [NM_000393.3(COL5A2_v001):c.682G>A, p.Gly228Arg]. |
| ArticleNumber | 16030 |
| Author | Kagami, Shoji Suga, Ken-ichi Goji, Aya Watanabe, Miki Nakagawa, Ryuji Naruto, Takuya Masuda, Kiyoshi Kohmoto, Tomohiro Imoto, Issei |
| Author_xml | – sequence: 1 givenname: Miki surname: Watanabe fullname: Watanabe, Miki organization: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University – sequence: 2 givenname: Ryuji surname: Nakagawa fullname: Nakagawa, Ryuji organization: Department of Pediatrics, Graduate School of Biomedical Sciences, Tokushima University – sequence: 3 givenname: Takuya surname: Naruto fullname: Naruto, Takuya organization: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University – sequence: 4 givenname: Tomohiro surname: Kohmoto fullname: Kohmoto, Tomohiro organization: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University – sequence: 5 givenname: Ken-ichi surname: Suga fullname: Suga, Ken-ichi organization: Department of Pediatrics, Graduate School of Biomedical Sciences, Tokushima University – sequence: 6 givenname: Aya surname: Goji fullname: Goji, Aya organization: Department of Pediatrics, Graduate School of Biomedical Sciences, Tokushima University – sequence: 7 givenname: Shoji surname: Kagami fullname: Kagami, Shoji organization: Department of Pediatrics, Graduate School of Biomedical Sciences, Tokushima University – sequence: 8 givenname: Kiyoshi surname: Masuda fullname: Masuda, Kiyoshi organization: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University – sequence: 9 givenname: Issei surname: Imoto fullname: Imoto, Issei email: issehgen@tokushima-u.ac.jp organization: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/27656288$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1002/0471221929.ch9 10.1002/humu.20107 10.1177/1941738112452385 10.1002/humu.22137 10.1371/journal.pone.0140480 10.1038/hgv.2015.50 10.1136/archdischild-2013-304822 10.1038/jhg.2016.12 10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O 10.1002/humu.20429 10.1038/srep11334 10.1097/GIM.0b013e3181eed412 10.1186/1750-1172-8-58 10.1136/jmg.35.10.846 10.1016/j.berh.2007.12.005 10.1038/hgv.2014.22 10.1002/humu.20091 10.1038/gim.2016.14 10.6084/m9.figshare.hgv.848 |
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| Snippet | Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue... Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue... |
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| Title | A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome |
| URI | https://link.springer.com/article/10.1038/hgv.2016.30 https://www.ncbi.nlm.nih.gov/pubmed/27656288 https://www.proquest.com/docview/1819429108 https://www.proquest.com/docview/1823034580 https://pubmed.ncbi.nlm.nih.gov/PMC5023785 https://www.nature.com/articles/hgv201630.pdf |
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