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A new familial case of Jalili syndrome caused by a novel mutation in CNNM4.由CNNM4基因新突变引起的一例新的家族性贾利利综合征病例。
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Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome.一个患有贾利利综合征的家族中CNNM4基因的新型剪接位点突变。
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Eye (Lond). 2010 Nov;24(11):1659-68. doi: 10.1038/eye.2010.103. Epub 2010 Aug 13.
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Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.CNNM4基因的突变会导致贾利利综合征，该综合征由常染色体隐性遗传的视锥视杆营养不良和牙釉质发育不全组成。
Am J Hum Genet. 2009 Feb;84(2):266-73. doi: 10.1016/j.ajhg.2009.01.009. Epub 2009 Feb 5.
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Ophthalmic Genet. 2012 Mar;33(1):34-8. doi: 10.3109/13816810.2011.592178. Epub 2011 Jul 5.

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Functional and pathogenic insights into CNNM4 variants in Jalili syndrome.焦利综合征中 CNNM4 变异的功能和致病机制研究
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Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of revealed by pupillometry and electrophysiologic investigations.Jalili 综合征患者的 Cone 通路功能障碍，通过瞳孔测量和电生理研究揭示了一种新型家族性变异。
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Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.贾利利综合征：7 名 Cone-Rod 营养不良伴牙釉质发育不全患者的横断面和纵向特征。
Am J Ophthalmol. 2018 Apr;188:123-130. doi: 10.1016/j.ajo.2018.01.029. Epub 2018 Feb 5.
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Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.通过对一个阿米什家族的全外显子组测序鉴定 CNNM4 中的突变及 CNNM4 与 IQCB1 之间的功能联系。
Mol Genet Genomics. 2018 Jun;293(3):699-710. doi: 10.1007/s00438-018-1417-6. Epub 2018 Jan 10.
7
A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.一个患有贾利利综合征的大型近亲家系中的新型突变及可变表型表达
Eye (Lond). 2016 Nov;30(11):1424-1432. doi: 10.1038/eye.2016.137. Epub 2016 Jul 15.

本文引用的文献

1
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.近亲家庭中基于同源性的突变分析和外显子组测序揭示了视网膜营养不良不寻常的临床和分子学发现。
Genet Med. 2014 Sep;16(9):671-80. doi: 10.1038/gim.2014.24. Epub 2014 Mar 13.
2
Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene.由于CNNM4基因中c.1312 dupC纯合突变导致的贾利利综合征的牙齿表型。
PLoS One. 2013 Oct 23;8(10):e78529. doi: 10.1371/journal.pone.0078529. eCollection 2013.
3
Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.纽芬兰岛全色盲的分子遗传学研究揭示了遗传异质性、奠基者效应以及北美首例贾利利综合征病例。
Ophthalmic Genet. 2013 Sep;34(3):119-29. doi: 10.3109/13816810.2013.763993. Epub 2013 Jan 30.
4
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.基于自身同源重组的外显子组测序在视网膜营养不良患者中发现了致病性突变和新的候选疾病基因。
Genome Res. 2013 Feb;23(2):236-47. doi: 10.1101/gr.144105.112. Epub 2012 Oct 26.
5
Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1.1型神经纤维瘤病患儿中与牙釉质发育不全相关的视锥-视杆营养不良
Ophthalmic Genet. 2012 Mar;33(1):34-8. doi: 10.3109/13816810.2011.592178. Epub 2011 Jul 5.
6
Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. Cone-rod 营养不良和牙本质发育不全（Jalili 综合征）：表型和环境。
Eye (Lond). 2010 Nov;24(11):1659-68. doi: 10.1038/eye.2010.103. Epub 2010 Aug 13.
7
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.CNNM4基因的突变会导致伴有牙釉质发育不全的隐性视锥-视杆营养不良。
Am J Hum Genet. 2009 Feb;84(2):259-65. doi: 10.1016/j.ajhg.2009.01.006. Epub 2009 Feb 5.
8
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.CNNM4基因的突变会导致贾利利综合征，该综合征由常染色体隐性遗传的视锥视杆营养不良和牙釉质发育不全组成。
Am J Hum Genet. 2009 Feb;84(2):266-73. doi: 10.1016/j.ajhg.2009.01.009. Epub 2009 Feb 5.
9
An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta.一种与牙釉质发育不全相关的常染色体隐性遗传性视锥-视杆营养不良。
J Med Genet. 2004 Jun;41(6):468-73. doi: 10.1136/jmg.2003.015792.
10
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome.一种进行性锥杆营养不良合并牙釉质发育不全：一种新综合征。
J Med Genet. 1988 Nov;25(11):738-40. doi: 10.1136/jmg.25.11.738.

Intra-familial phenotype variability in patients with Jalili syndrome.

作者信息

Gerth-Kahlert C, Seebauer B, Dold S, Hanson J V M, Wildberger H, Spörri A, van Waes H, Berger W

机构信息

Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.

1] Institute of Medical Molecular Genetics, Zurich, Switzerland [2] Neuroscience Center Zurich, University and ETH Zurich, Zurich, Switzerland.

出版信息

Eye (Lond). 2015 May;29(5):712-6. doi: 10.1038/eye.2014.314. Epub 2015 Jan 23.

DOI:10.1038/eye.2014.314
PMID:25613845
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4429266/
Abstract
摘要