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Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis

KIF11 gene mutations cause a rare autosomal dominant inheritable disease called microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR). Recently, such mutations were also found to be associated with familial exudative vitreoretinopathy (FEVR). Here, we report 7 nov...

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Autores principales: Li, Jia-Kai, Fei, Ping, Li, Yian, Huang, Qiu-Jing, Zhang, Qi, Zhang, Xiang, Rao, Yu-Qing, Li, Jing, Zhao, Peiquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4876406/
https://www.ncbi.nlm.nih.gov/pubmed/27212378
http://dx.doi.org/10.1038/srep26564
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author Li, Jia-Kai
Fei, Ping
Li, Yian
Huang, Qiu-Jing
Zhang, Qi
Zhang, Xiang
Rao, Yu-Qing
Li, Jing
Zhao, Peiquan
author_facet Li, Jia-Kai
Fei, Ping
Li, Yian
Huang, Qiu-Jing
Zhang, Qi
Zhang, Xiang
Rao, Yu-Qing
Li, Jing
Zhao, Peiquan
author_sort Li, Jia-Kai
collection PubMed
description KIF11 gene mutations cause a rare autosomal dominant inheritable disease called microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR). Recently, such mutations were also found to be associated with familial exudative vitreoretinopathy (FEVR). Here, we report 7 novel KIF11 mutations identified by targeted gene capture in a cohort of 142 probands with FEVR who were diagnosed in our clinic between March 2015 and November 2015. These mutations were: p.L171V, c.790-2A>C, p.Q525*, p.Q842*, p.S936*, p.L983fs and p.R1025G. Phenotypic analysis revealed that all of the affected probands had advanced FEVR (stage 4 or above). Three had microcephaly, and one had chorioretinopathy, which indicated a phenotypic overlap with MCLMR. Two mutations were also found in the families of the affected probands. One parent with a p.R1025G mutation had an avascular peripheral retina and abnormal looping vessels. However, one parent with p.L983fs had normal retina, which indicated incomplete penetration of the genotype. Our results further confirmed that KIF11 is causative of FEVR in an autosomal dominant manner. We also suggest the examination of MCLMR-like features, such as microcephaly, chorioretinopathy, for patients with FEVR and wide-field fundus photography for patients with MCLMR in future practice.
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spelling pubmed-48764062016-06-06 Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis Li, Jia-Kai Fei, Ping Li, Yian Huang, Qiu-Jing Zhang, Qi Zhang, Xiang Rao, Yu-Qing Li, Jing Zhao, Peiquan Sci Rep Article KIF11 gene mutations cause a rare autosomal dominant inheritable disease called microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR). Recently, such mutations were also found to be associated with familial exudative vitreoretinopathy (FEVR). Here, we report 7 novel KIF11 mutations identified by targeted gene capture in a cohort of 142 probands with FEVR who were diagnosed in our clinic between March 2015 and November 2015. These mutations were: p.L171V, c.790-2A>C, p.Q525*, p.Q842*, p.S936*, p.L983fs and p.R1025G. Phenotypic analysis revealed that all of the affected probands had advanced FEVR (stage 4 or above). Three had microcephaly, and one had chorioretinopathy, which indicated a phenotypic overlap with MCLMR. Two mutations were also found in the families of the affected probands. One parent with a p.R1025G mutation had an avascular peripheral retina and abnormal looping vessels. However, one parent with p.L983fs had normal retina, which indicated incomplete penetration of the genotype. Our results further confirmed that KIF11 is causative of FEVR in an autosomal dominant manner. We also suggest the examination of MCLMR-like features, such as microcephaly, chorioretinopathy, for patients with FEVR and wide-field fundus photography for patients with MCLMR in future practice. Nature Publishing Group 2016-05-23 /pmc/articles/PMC4876406/ /pubmed/27212378 http://dx.doi.org/10.1038/srep26564 Text en Copyright © 2016, Macmillan Publishers Limited http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 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/4.0/
spellingShingle Article
Li, Jia-Kai
Fei, Ping
Li, Yian
Huang, Qiu-Jing
Zhang, Qi
Zhang, Xiang
Rao, Yu-Qing
Li, Jing
Zhao, Peiquan
Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis
title Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis
title_full Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis
title_fullStr Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis
title_full_unstemmed Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis
title_short Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis
title_sort identification of novel kif11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4876406/
https://www.ncbi.nlm.nih.gov/pubmed/27212378
http://dx.doi.org/10.1038/srep26564
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