<i>KIF11</i>基因新突变致MCLMR综合征1例_Chinese Journal of Ocular Fundus Diseases

Authors：

成芳 ,  梁建宏

北京大学人民医院眼科、眼视光中心、眼病与视光医学研究所视网膜脉络膜诊治研究北京市重点实验室北京大学医学部眼视光学院, 北京 100044;
成芳, 现在山西省儿童医院（妇幼保健院）眼科, 太原 030013;

Corresponding author：

梁建宏, Email: drliangjianhong@126.com

Keywords：

KIF11基因突变; 小头畸形; MCLMR综合征; 脉络膜视网膜病变; 病例报告

DOI：

10.3760/cma.j.cn511434-20220425-00246

Video：

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Citation： 成芳, 梁建宏. KIF11基因新突变致MCLMR综合征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.	Güneş N, Taşdemir 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, Voβmerbäumer 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. Güneş N, Taşdemir 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, Voβmerbäumer 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基因新突变致MCLMR综合征1例

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