Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-10-05

AUTHORS

Long Guo, Nursel H Elcioglu, Zheng Wang, Yasemin K Demirkol, Pinar Isguven, Naomichi Matsumoto, Gen Nishimura, Noriko Miyake, Shiro Ikegawa

ABSTRACT

Marshall-Stickler syndrome represents a spectrum of inherited connective tissue disorders affecting the ocular, auditory, and skeletal systems. The syndrome is caused by mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes. In this study, we examined four Turkish families with Marshall-Stickler syndrome using whole-exome sequencing and identified one COL2A1 mutation and three COL11A1 mutations. Two of the COL11A1 mutations were novel. Our findings expand our knowledge of the COL11A1 mutational spectrum that causes Marshall-Stickler syndrome. More... »

PAGES

17040

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/hgv.2017.40

DOI

http://dx.doi.org/10.1038/hgv.2017.40

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1092084287

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28983407


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177 grid-institutes:grid.506261.6 schema:alternateName Department of Medical Genetics, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
178 schema:name Department of Medical Genetics, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
179 Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
180 rdf:type schema:Organization
181 grid-institutes:grid.509459.4 schema:alternateName Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
182 schema:name Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
183 rdf:type schema:Organization
 




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