Novel homozygotic mutation in the NR2E3 gene in a family affected with Goldmann-Favre syndrome_Chinese Journal of Ocular Fundus Diseases

Authors：

Bai Zhouxian , Hu Shuang ,  Kong Xiangdong

Genetic and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450000, China;

Corresponding author：

Kong Xiangdong, Email: kongxd@263.net

Keywords：

Goldmann-Favre syndrome; NR2E3 gene; Mutation

DOI：

10.3760/cma.j.issn.1005-1015.2018.06.004

Video：

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ObjectiveTo identify the pathogenic genes and mutations in a Hui population family with Goldmann-Favre syndrome.MethodsA two-generation Hui population family with consanguineous marriage including 4 individuals was enrolled in this study. DNA was extracted from 4 ml peripheral venous blood of all participants. The DNA sequence was performed by Ophthalmology Gene panel sequencing through Ion PGM platform. Then the selected mutations were proved by PCR-Sanger sequencing method. Pathogenic analysis of the mutation was done by means of retrieving PubMed and related databases. And the function of mutation effect was interpreted by protein prediction software.ResultsThe sequence result showed that a novel homozygous mutation in NR2E3, c.925C＞T (p.R309W), which resulted in conversion of arginine to tryptophan at position 309 of the photoreceptor-specific retinal nuclear receptor. Parents of the proband were carriers of the heterozygous mutation. The 309 amino acid locus of NR2E3 protein product was highly conserved among species, and protein prediction softwares predicted the mutation as harmful.ConclusionThe homozygous mutation c.925C＞T (p.R309W) in NR2E3 cause Goldmann-Favre syndrome in this patient.

Citation： Bai Zhouxian, Hu Shuang, Kong Xiangdong. Novel homozygotic mutation in the NR2E3 gene in a family affected with Goldmann-Favre syndrome. Chinese Journal of Ocular Fundus Diseases, 2018, 34(6): 541-545. doi: 10.3760/cma.j.issn.1005-1015.2018.06.004 Copy

1.	Nasr YG, Cherfan GM, Michels RG, et al. Goldmann-Favre maculopathy[J]. Retina, 1990, 10(3): 178-180.
2.	Green JL Jr, Jampol LM. Vascular opacification and leakage in X-linked (juvenile) retinoschisis[J]. Br J Ophthalmol, 1979, 63(5): 368-373.
3.	Fishman GA, Jampol LM, Goldberg MF. Diagnostic features of the Favre-Goldmann syndrome[J]. Br J Ophthalmol, 1976, 60(5): 345-353.
4.	李孟达, 殷晓贝, 何婷, 等. Goldmann-Favre综合征一例[J]. 中华眼科杂志, 2016, 52(1): 60-62. DOI: 10.3760/cma.j.issn.0412-4081.2016.01.016.Li MD, Yin XB, He T, et al. A case of Goldmann-Favre syndrome[J]. Chin J Ophthalmol, 2016, 52(1): 60-62. DOI: 10.3760/cma.j.issn.0412-4081.2016.01.016.
5.	王凯, 黎晓新, 姜燕荣. Goldmann-Favre综合征二例[J]. 中华眼科杂志, 2008, 44(9): 847-850. DOI: 10.3321/j.issn:0412-4081.2008.09.016.Wang K, Li XX, Jiang YR. Two cases of Goldmann-Favre syndrome[J]. Chin J Ophthalmol, 2008, 44(9): 847-850. DOI: 10.3321/j.issn:0412-4081.2008.09.016.
6.	Pachydaki SI, Klaver CC, Barbazetto IA, et al. Phenotypic features of patients with NR2E3 mutations[J]. Arch Ophthalmol, 2009, 127(1): 71-75. DOI: 10.1001/archophthalmol.2008.534.
7.	Bernal S, Solans T, Gamundi MJ, et al. Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies[J]. Clin Genet, 2008, 73(4): 360-366. DOI: 10.1111/j.1399-0004.2008.00963.x.
8.	Manayath GJ, Namburi P, Periasamy S, et al. A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina[J]. Mol Vis, 2014, 20: 724-731.
9.	Haider NB, Jacobson SG, Cideciyan AV, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate[J]. Nat Genet, 2000, 24(2): 127-131. DOI: 10.1038/72777.
10.	Hood DC, Cideciyan AV, Roman AJ, et al. Enhanced S cone syndrome: evidence for an abnormally large number of S cones[J]. Vision Res, 1995, 35(10): 1473-1481.
11.	Audo I, Michaelides M, Robson AG, et al. Phenotypic variation in enhanced S-cone syndrome[J]. Invest Ophthalmol Vis Sci, 2008, 49(5): 2082-2093. DOI: 10.1167/iovs.05-1629.
12.	Marmor MF. A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome)[J]. Doc Ophthalmol, 2006, 113(3): 213-215. DOI: 10.1007/s10633-006-9031-z.
13.	Theodossiadis PG, Koutsandrea C, Kollia AC, et al. Optical coherence tomography in the study of the Goldmann-Favre syndrome[J]. Am J Ophthalmol, 2000, 129(4): 542-544.

1. Nasr YG, Cherfan GM, Michels RG, et al. Goldmann-Favre maculopathy[J]. Retina, 1990, 10(3): 178-180.
2. Green JL Jr, Jampol LM. Vascular opacification and leakage in X-linked (juvenile) retinoschisis[J]. Br J Ophthalmol, 1979, 63(5): 368-373.
3. Fishman GA, Jampol LM, Goldberg MF. Diagnostic features of the Favre-Goldmann syndrome[J]. Br J Ophthalmol, 1976, 60(5): 345-353.
4. 李孟达, 殷晓贝, 何婷, 等. Goldmann-Favre综合征一例[J]. 中华眼科杂志, 2016, 52(1): 60-62. DOI: 10.3760/cma.j.issn.0412-4081.2016.01.016.Li MD, Yin XB, He T, et al. A case of Goldmann-Favre syndrome[J]. Chin J Ophthalmol, 2016, 52(1): 60-62. DOI: 10.3760/cma.j.issn.0412-4081.2016.01.016.
5. 王凯, 黎晓新, 姜燕荣. Goldmann-Favre综合征二例[J]. 中华眼科杂志, 2008, 44(9): 847-850. DOI: 10.3321/j.issn:0412-4081.2008.09.016.Wang K, Li XX, Jiang YR. Two cases of Goldmann-Favre syndrome[J]. Chin J Ophthalmol, 2008, 44(9): 847-850. DOI: 10.3321/j.issn:0412-4081.2008.09.016.
6. Pachydaki SI, Klaver CC, Barbazetto IA, et al. Phenotypic features of patients with NR2E3 mutations[J]. Arch Ophthalmol, 2009, 127(1): 71-75. DOI: 10.1001/archophthalmol.2008.534.
7. Bernal S, Solans T, Gamundi MJ, et al. Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies[J]. Clin Genet, 2008, 73(4): 360-366. DOI: 10.1111/j.1399-0004.2008.00963.x.
8. Manayath GJ, Namburi P, Periasamy S, et al. A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina[J]. Mol Vis, 2014, 20: 724-731.
9. Haider NB, Jacobson SG, Cideciyan AV, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate[J]. Nat Genet, 2000, 24(2): 127-131. DOI: 10.1038/72777.
10. Hood DC, Cideciyan AV, Roman AJ, et al. Enhanced S cone syndrome: evidence for an abnormally large number of S cones[J]. Vision Res, 1995, 35(10): 1473-1481.
11. Audo I, Michaelides M, Robson AG, et al. Phenotypic variation in enhanced S-cone syndrome[J]. Invest Ophthalmol Vis Sci, 2008, 49(5): 2082-2093. DOI: 10.1167/iovs.05-1629.
12. Marmor MF. A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome)[J]. Doc Ophthalmol, 2006, 113(3): 213-215. DOI: 10.1007/s10633-006-9031-z.
13. Theodossiadis PG, Koutsandrea C, Kollia AC, et al. Optical coherence tomography in the study of the Goldmann-Favre syndrome[J]. Am J Ophthalmol, 2000, 129(4): 542-544.

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Novel homozygotic mutation in the NR2E3 gene in a family affected with Goldmann-Favre syndrome

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