A Novel<i>CRYBB2</i>Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family

Zhou, Yu; Zhai, Yan; Huang, Lulin; Gong, Bo; Li, Jie; Fang, Hao; Wu, Zhengzheng; Shi, Yi; Yang, Yin

doi:10.1155/2016/4353957

Cited by 8 publications

(3 citation statements)

References 36 publications

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“…Until now, totally, 22 mutations in CRYBB2 (11 were related to exon 6) including c.563G > A, related to the congenital cataract, such as c.499T<G (p.E163X), c.92C > G (p.S31W), 7 and c.5C > T (p.A2V), 5 have been discovered. 19 Interestingly, these reported mutations are only related to the hereditary congenital cataract with no additional systemic abnormality. Moreover, most mutations were centrally located at the final two exons.…”

Section: Discussionmentioning

confidence: 99%

A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family

Liu

et al. 2020

European Journal of Ophthalmology

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Purpose This study aimed to examine pathogenic mutation within one Chinese family of five-generations suffering from autosomal dominant cataract. Methods Next-generation sequencing and Sanger sequencing were used to find the pathogenic variants. Results A rare mutation, c.563G > A, in CRYBB2 gene was found in the proband that showed symptom of non-syndromic congenital autosomal dominant cataract. This mutation had been found in all affected individuals and in one healthy infant, but it did not exist between two individuals who did not develop such disease in that family, as well as in 100 healthy subjects who showed no relation with that family. Cataracts in this family varied with different severity of lens opacities and elongation of axial length. Conclusion One missense mutation c.563G > A is reported in the CRYBB2 gene among one Chinese family suffering from early-onset cataract, and associated novel phenotypes are the elongation of axial length and the types of cataract. Our results expand the spectrum of associated phenotypes of CRYBB2 mutation.

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Section: Discussionmentioning

confidence: 99%

A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family

Liu

et al. 2020

European Journal of Ophthalmology

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“…Multiple studies have revealed that CRYBB2 gene mutations (including p.Q155X [17][18][19], p.E167X [20]) were associated with congenital autosomal dominant cataracts. In our study, we also found a CRYBB2 novel mutation (p.Gly161Arg) in simply microphthalmos eyes in Family 2.…”

Section: Discussionmentioning

confidence: 99%

Three novel mutations of microphthalmos identified in two Chinese families

Tang¹,

Xu²,

Zheng³

et al. 2020

Preprint

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Background: To identify the underlying genetic defect responsible for microphthalmos eyes in two three-generation Chinese families.Methods: In our study, we screened 425 potential eye disease-related genes of the proband of a three-generation Chinese family diagnosed with microphthalmos using next-generation sequencing-based target capture sequencing. Variants were filtered and analyzed to identify possible disease-causing variants before Sanger sequencing validation.Results: We enrolled two families with microphthalmos (Family 1: microphthalmos with congenital ocular coloboma and Family 2: simple microphthalmos). Two novel heterozygous mutations, PXDN c.3165C>T (p.Pro1055Pro) and PXDN c.2640C>G (p.Arg880Arg), were found in Family 1, and CRYBB2 c.481G>A (p.Gly161Arg) was found in Family 2, but none of the mutations were found in the unaffected individuals, who were phenotypically normal. Multiple orthologous sequence alignment (MSA) revealed that the CRYBB2 p.Gly161Arg mutation was a deleterious effect mutation.Conclusions: The three novel mutations found in our study extend our current understanding of the genetic basis of microphthalmos and provide early presymptomatic diagnosis and emphasize the significance of genetic diagnosis of microphthalmos.

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“…The prevalence of congenital cataracts varies from 1 to 6 per 10,000 live births [2]. Approximately one third of the cases have a family history [3]. The cataract may be an isolated anomaly, or part of a multisystem syndrome [4].…”

Section: Introductionmentioning

confidence: 99%

Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing

Zhang

Cao

et al. 2019

BMC Med Genet

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BackgroundCongenital cataract is a clinically and genetically heterogeneous visual impairment. The aim of this study was to identify causative mutations in five unrelated Chinese families diagnosed with congenital cataracts.MethodsDetailed family history and clinical data were collected, and ophthalmological examinations were performed using slit-lamp photography. Genomic DNA was extracted from peripheral blood of all available members. Thirty-eight genes associated with cataract were captured and sequenced in 5 typical nonsyndromic congenital cataract probands by targeted next-generation sequencing (NGS), and the results were confirmed by Sanger sequencing. Bioinformatics analysis was performed to predict the functional effect of mutant genes.ResultsResults from the DNA sequencing revealed five potential causative mutations: c.154 T > C(p.F52 L) in GJA8 of Family 1, c.1152_1153insG(p.S385Efs*83) in GJA3 of Family 2, c.1804 G > C(p.G602R) in BFSP1 of Family 3, c.1532C > T(p.T511 M) in EPHA2 of Family 4 and c.356G > A(p.R119H) in HSF4 of Family 5. These mutations co-segregated with all affected individuals in the families and were not found in unaffected family members nor in 50 controls. Bioinformatics analysis from several prediction tools supported the possible pathogenicity of these mutations.ConclusionsIn this study, we identified five novel mutations (c.154 T > C in GJA8, c.1152_1153insG in GJA3, c.1804G > C in BFSP1, c.1532C > T in EPHA2, c.356G > A in HSF4) in five Chinese families with hereditary cataracts, respectively. NGS can be used as an effective tool for molecular diagnosis of genetically heterogeneous disorders such as congenital cataract, and the results can provide more effective clinical diagnosis and genetic counseling for the five families.

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A NovelCRYBB2Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family

Cited by 8 publications

References 36 publications

A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family

A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family

Three novel mutations of microphthalmos identified in two Chinese families

Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing

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