Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants

Authors: Xue Fan, Zhen Li, Lingzhi Sha, Xunlun Sheng, Weining Rong

Source: Scientific Reports, Vol 15, Iss 1, Pp 1-16 (2025)

Subject Terms: Inherited retinal dystrophies, Homozygous variation, Genotype, Clinical phenotype, Consanguineous marriage, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/8832c375113c47cabb6a8fa3e2e01df2

A Novel Compound Heterozygous Variant in the ABHD12 Gene Cause PHARC Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype

Authors: Meijiao Ma, Jinhai Ma, Yuanyuan Lian, Xueli Wu, Wenming Wang, Weining Rong, Xunlun Sheng

Source: Molecular Genetics & Genomic Medicine, Vol 13, Iss 2, Pp n/a-n/a (2025)

Subject Terms: ABHD12, Chinese, new genotype‐phenotype, PHARC, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/b699e0acf60c42808ec7da3b704baa9e

De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia

Authors: Xiaoyu Huang, Huiping Li, Shangying Yang, Meijiao Ma, Yuanyuan Lian, Xueli Wu, Xiaolong Qi, Xuhui Wang, Weining Rong, Xunlun Sheng

Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-11 (2024)

Subject Terms: Coffin-Siris syndrome 1, ARID1B gene, Early-onset high myopia, Genotype, Phenotype, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/873e650979f94a20a759b4433e8b0011

MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity

Authors: Zhen Li, Runqing Ma, Meijiao Ma, Xue Xiao, Xiaolong Qi, Hongjuan Ma, Xunlun Sheng, Weining Rong

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: nanophthalmos, whole exome sequencing, genetic variant, clinical, MFRP, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1407361/full; https://doaj.org/toc/1664-8021

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Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family

Authors: Xinhe Fang, Meijiao Ma, Weining Rong, Yuan-Yuan Lian, Xueli Wu, Yongying Gao, Hui-Ping Li, Xunlun Sheng

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: keratoconus, joubert syndrome, klinefelter syndrome, CPLANE1 gene, variation, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1417584/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/bb116e5c0a39438db92e56935ef602e8

Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q

Authors: Shuang Zhang, Qianwei Cui, Shangying Yang, Fangxia Zhang, Chunxia Li, Xiaoguang Wang, Bo Lei, Xunlun Sheng

Source: BMC Pediatrics, Vol 23, Iss 1, Pp 1-13 (2023)

Subject Terms: Structural variations, 2q, 6q, Chromosome translocation, Copy number variation, Partial trisomy 6q, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/3fd503e61d6149beb1a6f9046c32eced

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families

Authors: Feiyin Zi, Zhen Li, Wanyu Cheng, Xiaoyu Huang, Xunlun Sheng, Weining Rong

Source: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-12 (2023)

Subject Terms: Early-onset high myopia, X-linked recessive inheritance, Genetic variant, Clinical phenotype, Internal medicine, RC31-1245, Genetics, QH426-470

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Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/ae834ef3955f40f093cfffbca5163cd5

Xp21 DNA microdeletion syndrome in a Chinese family: clinical features show retinitis pigmentosa and chronic granuloma

Authors: Mengyang Li, Xueqin Hu, Xueli Wu, Na Zhao, Yuanyuan Lian, Meijiao Ma, Huiping Li, Xunlun Sheng

Source: Frontiers in Genetics, Vol 14 (2024)

Subject Terms: RP GTPase regulator, cytochrome b-245 beta chain, X-linked Kx blood group antigen, retinitis pigmentosa, chronic granulomatous disease, McLeod syndrome, Genetics, QH426-470

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Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1276227/full; https://doaj.org/toc/1664-8021

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De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia

Authors: Xiaoyu Huang, Xue Rui, Shuang Zhang, Xiaolong Qi, Weining Rong, Xunlun Sheng

Source: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-10 (2023)

Subject Terms: EP300 gene, Early onset high myopia, Phenotype, Rubinstein-Taybi syndrome 2, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/4233d8c88e5f4a66b53509fa79f87fa6

Four different gene-related cone–rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance

Authors: Zhen Li, Wanyu Cheng, Feiyin Zi, Juan Wang, Xiaoyu Huang, Xunlun Sheng, Weining Rong

Source: Frontiers in Genetics, Vol 14 (2023)

Subject Terms: cone–rod dystrophy, whole-exome sequencing, genotype, clinical phenotype, variant, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1157156/full; https://doaj.org/toc/1664-8021

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Evaluating the association between MPDZ-NF1B rs1324183 and keratoconus in an independent northwestern Chinese population

Authors: Shiqin Yuan, Dong Li, Meijiao Ma, Lingjie Zhou, Zhen Ma, Baoyu Shi, Shuang Zhang, Huiping Li, Xunlun Sheng, Junxiu Liu

Source: BMC Ophthalmology, Vol 22, Iss 1, Pp 1-9 (2022)

Subject Terms: Keratoconus, rs1324183 (MPDZ-NF1B), Association, Genetic mark, Corneal parameter, Ophthalmology, RE1-994

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2415

Access URL: https://doaj.org/article/feb06c6d15eb4f4cbdf47de781c93c96

Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual

Authors: Tianyu Zhu, Yuxin Zhang, Xunlun Sheng, Xiangzheng Zhang, Yu Chen, Hongjing Zhu, Yueshuai Guo, Yaling Qi, Yichen Zhao, Qi Zhou, Xue Chen, Xuejiang Guo, Chen Zhao

Source: eLife, Vol 12 (2023)

Subject Terms: CEP78, male infertility, cone-rod dystrophy, IFT20, TTC21A, Medicine, Science, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://elifesciences.org/articles/76157; https://doaj.org/toc/2050-084X

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BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity

Authors: Shangying Yang, Zhen Li, Wanyu Cheng, Meijiao Ma, Rui Qi, Xue Rui, Yinghua Ren, Xunlun Sheng, Weining Rong

Source: Molecular Genetics & Genomic Medicine, Vol 11, Iss 1, Pp n/a-n/a (2023)

Subject Terms: autosomal recessive bestrophinopathies, best vitelliform macular dystrophy, BEST1 gene, genotype and phenotype, irregular dominant inheritance, Genetics, QH426-470

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Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/53af159aed1e43af88aa48a24c15d6ed

Two novel variations in LRP2 cause Donnai-Barrow syndrome in a Chinese family with severe early-onset high myopia

Authors: Shiqin Yuan, Xiaoyu Huang, Shuang Zhang, Shangying Yang, Xue Rui, Xiaolong Qi, Xuhui Wang, Yali Zheng, Weining Rong, Xunlun Sheng

Source: Frontiers in Genetics, Vol 14 (2023)

Subject Terms: Donnai-Barrow syndrome, early-onset high myopia, compound heterozygous variation, clinical features, genetic assessment, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1107347/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/5f3383232bb241afa26efda14d9e0d55

Novel Compound Heterozygous Variations in MPDZ Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family

Authors: Shuang Zhang, Fangxia Zhang, Juan Wang, Shangying Yang, Yinghua Ren, Xue Rui, Xiaobo Xia, Xunlun Sheng

Source: Cells, Vol 11, Iss 22, p 3602 (2022)

Subject Terms: macular coloboma, MPDZ, compound heterozygous mutation, ellipsoid zone, retina, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/11/22/3602; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/e3ed367240bf48bdbd564f3574129c30

Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees

Authors: Xue Chen, Xunlun Sheng, Yani Liu, Zili Li, Xiantao Sun, Chao Jiang, Rui Qi, Shiqin Yuan, Xuhui Wang, Ge Zhou, Yanyan Zhen, Ping Xie, Qinghuai Liu, Biao Yan, Chen Zhao

Source: Journal of Translational Medicine, Vol 16, Iss 1, Pp 1-12 (2018)

Subject Terms: Retinitis pigmentosa, Genetic heterogeneity, Next generation sequencing, Mutation, OFD1, C8ORF37, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12967-018-1522-7; https://doaj.org/toc/1479-5876

Access URL: https://doaj.org/article/372f3c6e608d41b1b2735e332f412b03

Survey report on keratoplasty in China: A 5-year review from 2014 to 2018.

Authors: Hua Gao, Ting Huang, Zhiqiang Pan, Jie Wu, Jianjiang Xu, Jing Hong, Wei Chen, Huping Wu, Qian Kang, Lei Zhu, Lingling Fu, Liqiang Wang, Guigang Li, Zhihong Deng, Hong Zhang, Hui Xu, Qingliang Zhao, Hongshan Liu, Linnong Wang, Baihua Chen, Xiuming Jin, Minghai Huang, Jizhong Yang, Minghong Gao, Wentian Zhou, Hanping Xie, Yao Fu, Feng Wen, Changbo Fu, Shaozhen Zhao, Yanning Yang, Yanjiang Fu, Tao Yao, Chaoqing Wang, Xiaonan Sun, Xiaowei Gao, Maimaitiming Reziwan, Yingping Deng, Jian Li, Limei Liu, Bo Zeng, Lianyun Bao, Hua Wang, Lijun Zhang, Zhiyuan Li, Zhijian Yin, Yuechun Wen, Xiao Zheng, Liqun Du, Zhenping Huang, Xunlun Sheng, Hui Zhang, Lizhong Chen, Xiaoming Yan, Xiaowei Liu, Wenhui Liu, Yuan Liu, Liang Liang, Pengcheng Wu, Lijun Qu, Jinkui Cheng, Hua Zhang, Qige Qi, Yangkyi Tseten, Jianping Ji, Jin Yuan, Ying Jie, Jun Xiang, Yifei Huang, Yuli Yang, Ying Li, Yiyi Hou, Tong Liu, Lixin Xie, Weiyun Shi

Source: PLoS ONE, Vol 15, Iss 10, p e0239939 (2020)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/9803ae5df8634195b197d1cbae42b6a8

Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.

Authors: Xue Chen, Xunlun Sheng, Xiaoxing Liu, Huiping Li, Yani Liu, Weining Rong, Shaoping Ha, Wenzhou Liu, Xiaoli Kang, Kanxing Zhao, Chen Zhao

Source: PLoS ONE, Vol 9, Iss 8, p e105439 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4136877?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/e8400b3838a4412d9549b10eec00beb1

Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.

Authors: Weining Rong, Xue Chen, Kanxing Zhao, Yani Liu, Xiaoxing Liu, Shaoping Ha, Wenzhou Liu, Xiaoli Kang, Xunlun Sheng, Chen Zhao

Source: PLoS ONE, Vol 9, Iss 5, p e97808 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4022727?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/77cf01d4717d4c5786519671daac2ee8

A multi-center, cross-sectional study on the burden of infectious keratitis in China.

Authors: Xiusheng Song, Lixin Xie, Xiaodong Tan, Zhichong Wang, Yanning Yang, Yuansheng Yuan, Yingping Deng, Shaoying Fu, Jianjiang Xu, Xuguang Sun, Xunlun Sheng, Qing Wang

Source: PLoS ONE, Vol 9, Iss 12, p e113843 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0113843&type=printable; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/dc020b76cbb64fd0b5f657fc515750a8