<i>KIF11</i>基因新突變致MCLMR綜合征1例_Chinese Journal of Ocular Fundus Diseases

Authors：

成芳 ,  梁建宏

北京大學人民醫院眼科、眼視光中心、眼病與視光醫學研究所視網膜脈絡膜診治研究北京市重點實驗室北京大學醫學部眼視光學院, 北京 100044;
成芳, 現在山西省兒童醫院（婦幼保健院）眼科, 太原 030013;

Corresponding?author：

梁建宏, Email: drliangjianhong@126.com

Keywords：

KIF11基因突變; 小頭畸形; MCLMR綜合征; 脈絡膜視網膜病變; 病例報告

DOI：

10.3760/cma.j.cn511434-20220425-00246

Video：

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Citation： 成芳, 梁建宏. KIF11基因新突變致MCLMR綜合征1例. Chinese Journal of Ocular Fundus Diseases, 2023, 39(7): 583-584. doi: 10.3760/cma.j.cn511434-20220425-00246 Copy

1.	Opitz JMOn congenital lymphedema[J]. Am J Med Genet1986241127129. DOI: 10.1002/ajmg.1320240115.
2.	Ostergaard P, Simpson MA, Mendola A, et alMutations in KIF11cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy[J]. Am J Hum Genet2012902356362. DOI: 10.1016/j.ajhg.2011.12.018.
3.	Malvezzi JV, Magalhaes IH, Costa SS, et al. KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability[J/OL]. Hum Genome Var, 2018, 5: 18010[2018-03-29]. https://europepmc.org/article/MED/31428438. DOI:10.1038/hgv.2018.10.
4.	Shurygina MF, Simonett JM, Parker MA, et alGenotype phenotype correlation and variability in microcephaly associated with chorioretinopathy or familial exudative vitreoretinopathy[J]. Invest Ophthalmol Vis Sci202061132. DOI: 10.1167/iovs.61.13.2.
5.	Robitaille JM, Gillett RM, LeBlanc MA , et al. Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations[J]. JAMA Ophthalmol20141321213931399. DOI:10.1001/jamaophthalmol.2014.2814.
6.	Rososinski A, Tran T, Galvin J, et alNew findings form multimodal fundus imaging over 3 year of a patient with microcephaly, chorioretinopathy, and KIF11 mutation[J]. Retin Cases Brief Rep20191317983. DOI:10.1097/ICB.0000000000000538.
7.	Mears K, Bakall B, Harney LA, et alAutosomal dominant microcephaly associated with congenital lymphedema and chorioretinopathy due to a novel mutation in KIF11[J]. JAMA Ophthalmol20151336720721. DOI:10.1001/jamaophthalmol.2015.199.
8.	Kondo H, Matsushita I, Nagata T, et alRetinal features of family members with familial exudative vitreoretinopathy caused by mutations in KIF11 gene[J]. Transl Vis Sci Technol202110718. DOI: 10.1167/tvst.10.7.18.
9.	Güne? N, Ta?demir E, Jeffery H, et alA novel mutation of KIF11 in a child with 22q11.2 deletion syndrome associated with MCLMR[J]. Mol Syndromol201895266270. DOI: 10.1159/000491568.
10.	Riedl J, Voβmerb?umer U, Stoffelns B, et alTotal retinal detachment caused by a KIF11 mutation[J]. Eur J Ophthalmol2017275e147e148. DOI: 10.5301/ejo.5000987.
11.	Guo Z, Huo X, Wu D, et alA novel variant of the KIF11 gene, c. 2922G>T, is associated with microcephaly by affecting RNA splicing[J]. Dev Neurosci2022442113120. DOI: 10.1159/000518923.

1. Opitz JMOn congenital lymphedema[J]. Am J Med Genet1986241127129. DOI: 10.1002/ajmg.1320240115.
2. Ostergaard P, Simpson MA, Mendola A, et alMutations in KIF11cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy[J]. Am J Hum Genet2012902356362. DOI: 10.1016/j.ajhg.2011.12.018.
3. Malvezzi JV, Magalhaes IH, Costa SS, et al. KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability[J/OL]. Hum Genome Var, 2018, 5: 18010[2018-03-29]. https://europepmc.org/article/MED/31428438. DOI:10.1038/hgv.2018.10.
4. Shurygina MF, Simonett JM, Parker MA, et alGenotype phenotype correlation and variability in microcephaly associated with chorioretinopathy or familial exudative vitreoretinopathy[J]. Invest Ophthalmol Vis Sci202061132. DOI: 10.1167/iovs.61.13.2.
5. Robitaille JM, Gillett RM, LeBlanc MA , et al. Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations[J]. JAMA Ophthalmol20141321213931399. DOI:10.1001/jamaophthalmol.2014.2814.
6. Rososinski A, Tran T, Galvin J, et alNew findings form multimodal fundus imaging over 3 year of a patient with microcephaly, chorioretinopathy, and KIF11 mutation[J]. Retin Cases Brief Rep20191317983. DOI:10.1097/ICB.0000000000000538.
7. Mears K, Bakall B, Harney LA, et alAutosomal dominant microcephaly associated with congenital lymphedema and chorioretinopathy due to a novel mutation in KIF11[J]. JAMA Ophthalmol20151336720721. DOI:10.1001/jamaophthalmol.2015.199.
8. Kondo H, Matsushita I, Nagata T, et alRetinal features of family members with familial exudative vitreoretinopathy caused by mutations in KIF11 gene[J]. Transl Vis Sci Technol202110718. DOI: 10.1167/tvst.10.7.18.
9. Güne? N, Ta?demir E, Jeffery H, et alA novel mutation of KIF11 in a child with 22q11.2 deletion syndrome associated with MCLMR[J]. Mol Syndromol201895266270. DOI: 10.1159/000491568.
10. Riedl J, Voβmerb?umer U, Stoffelns B, et alTotal retinal detachment caused by a KIF11 mutation[J]. Eur J Ophthalmol2017275e147e148. DOI: 10.5301/ejo.5000987.
11. Guo Z, Huo X, Wu D, et alA novel variant of the KIF11 gene, c. 2922G>T, is associated with microcephaly by affecting RNA splicing[J]. Dev Neurosci2022442113120. DOI: 10.1159/000518923.

Chinese Journal of Ocular Fundus Diseases

KIF11基因新突變致MCLMR綜合征1例

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