A novel HSF4 mutation in a Chinese family with autosomal dominant congenital cataract

Liu, Ling; Zhang, Qing; Zhou, Luxin; Tang, Zhaohui

doi:10.1007/s11596-015-1430-5

Cited by 9 publications

(2 citation statements)

References 17 publications

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“…Currently, an increasing number of genes have been identified as associated with various forms of congenital cataracts. These genes include crystallin genes [crystallin α A (CRYAA) (2), crystallin α B (CRYAB) (3), cr ystallin A1/A3 (CRYBA1/A3) (4), cr ystallin A4 (CRYBA4) (5), crystallin B1 (CRYBB1) (6), crystallin B2 (CRYBB2) (7), crystallin B2 (CRYBB3) (8), crystallin γ C (CRYGC) (9), crystallin γ D (CRYGD) (10) and crystallin γ S (CRYGS) (11)], transcription factors [heat shock transcription factor 4 (12), paired-like homeodomain transcription factor 3 (13) and MAF bZIP transcription factor (14)], skeleton protein genes [beaded filament structural proteins 1 (15) and 2 (16)], membrane transporter genes [major intrinsic protein of lens fiber (MIP) (17), gap junction protein α 8 (GJA8) (18), gap junction protein α 3 (GJA3) (19) and lens intrinsic membrane protein 2 (20)], glucosaminyl (N-acetyl) transferase 2 (21), charged multivesicular body protein 4B (22), and transmembrane protein 114 (23). Elucidating the structure and functional characteristics of these candidate genes and their protein products may aid in understanding the occurrence of cataracts, and the functional and structural implications of their mutations may provide important clues for understanding the disease etiology.…”

Section: Introductionmentioning

confidence: 99%

Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts

Zhou

et al. 2018

Exp Ther Med

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At present, congenital cataract is the world's leading cause of blindness among children. The aim of the present study was to determine and analyze the genetic disorder associated with a congenital nuclear cataract in a three-generation family of Guangxi Zhuang ethnicity. A total of 3 affected individuals and 5 unaffected family members underwent appropriate comprehensive medical examinations, mainly of the eyes. The white blood cells of the family members were collected and genomic DNA was extracted from 100 healthy individuals, as the control group. The sequences of candidate genes were determined by polymerase chain reaction amplification followed by direct sequencing. The functional consequences of the mutation were analysed with biology software. A missense mutation (c.97C>T) was found in exon 1 of major intrinsic protein of lens fiber (MIP) gene. Therefore, the arginine of the highly conserved codon 33 was changed to cysteine. This mutation was identified in the affected family members, but not identified in unaffected family members or the 100 normal controls. The mutation in the MIP gene is the genetic cause of the congenital cataract in the ethnic Guangxi Zhuang family.

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Section: Introductionmentioning

confidence: 99%

Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts

Zhou

et al. 2018

Exp Ther Med

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“…通过测量激光往返待测路径的飞行时间来测得往返距离, 现阶段该方法主要用于超长距离测距, 测距精度一般在毫米甚至厘米量级 [16] . 微波相位法测距是对测量光进行正弦调制, 通过比较激光往返待测距离的相位变化获取距离信息.…”

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Laser ranging system based on double intensity modulation

Wang,

Shao,

et al. 2023

Acta Phys. Sin.

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Long-range, high-precision, and high-refresh rate absolute distance measurement based on double intensity modulation is proposed and experimentally demonstrated. In this scheme, a Mach-Zehnder modulator is utilized to perform bidirectional modulation by a reversible optical path. In the Mach-Zehnder modulator, interference demodulation is completed by bidirectional modulated light with time difference. By adjusting the driving frequency of the modulator, the curve of light intensity versus driving frequency is achieved. Consequently, the distance to be measured can be obtained by extracted the frequency interval between two adjacent light intensity minimum points. In the traditional double polarization modulation ranging, the optical carrier is polarized by a Polarizing Beam Splitter (PBS) before phase modulator. Moreover, a quarter wave or Faraday rotating mirror need to be placed to adjust the polarization in front of the target object. Therefore, the polarization state is an indispensable factor in the traditional double polarization modulation ranging. Due to the advantage of the intensity modulation, absolute distance measurement is achieved without additional polarization control, greatly simplifying the system. Theoretical analysis of the system is developed, which is then demonstrated by experiments. In the experiments, we achieved the following results. Firstly, the relationship between the intensity of the output light of the system and the modulation frequency is theoretically analyzed, which proved to be a cosine form. Secondly, swing method is introduced to realize high-speed absolute distance measurement during the analytical distance algorithm, and we achieved a refresh rate of 2 kHz in the experiments. Thirdly, the relationship between measurement ranging precision and frequency stability is analyzed. When the modulation frequency is 8.9 GHz, the experimentally measured frequency stability is on the order of $10^{-7}$. And when the distance to be measured is 2.73 m, the standard deviation of ranging reaches 1 $\mu$m, which represents the precision of the system. That is, the relative measurement precision is also on the order of $10^{-7}$,which is consistent with theoretical analysis. Finally, when the distance to be measured increases from 1.57 m to 100.83 m, the measurement precision increases from 1 $\mu$m to 30 $\mu$m. It is worth mentioning that the relative measurement precision of the system is always stable in the order of $10^{-7}$. Our scheme has some significant advantages, such as long-range, high-precision, high-refresh rate, and a simple and compact configuration. Moreover, our method can be used in important applications such as precision instruments, metrology, and aerospace.

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Mutation update of transcription factor genesFOXE3,HSF4,MAF, andPITX3causing cataracts and other developmental ocular defects

et al. 2018

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Mutations in the transcription factor genes FOXE3, HSF4, MAF, and PITX3 cause congenital lens defects including cataracts that may be accompanied by defects in other components of the eye or in nonocular tissues. We comprehensively describe here all the variants in FOXE3, HSF4, MAF, and PITX3 genes linked to human developmental defects. A total of 52 variants for FOXE3, 18 variants for HSF4, 20 variants for MAF, and 19 variants for PITX3 identified so far in isolated cases or within families are documented. This effort reveals FOXE3, HSF4, MAF, and PITX3 to have 33, 16, 18, and 7 unique causal mutations, respectively. Loss-of-function mutant animals for these genes have served to model the pathobiology of the associated human defects, and we discuss the currently known molecular function of these genes, particularly with emphasis on their role in ocular development. Finally, we make the detailed FOXE3, HSF4, MAF, and PITX3 variant information available in the Leiden Online Variation Database (LOVD) platform at https://www.LOVD.nl/FOXE3, https://www.LOVD.nl/HSF4, https://www.LOVD.nl/MAF, and https://www.LOVD.nl/PITX3. Thus, this article informs on key variants in transcription factor genes linked to cataract, aphakia, corneal opacity, glaucoma, microcornea, microphthalmia, anterior segment mesenchymal dysgenesis, and Ayme-Gripp syndrome, and facilitates their access through Web-based databases.

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A novel HSF4 mutation in a Chinese family with autosomal dominant congenital cataract

Cited by 9 publications

References 17 publications

Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts

Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts

Laser ranging system based on double intensity modulation

Mutation update of transcription factor genesFOXE3,HSF4,MAF, andPITX3causing cataracts and other developmental ocular defects

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