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Updated: Jun 26, 2026
Inducement and Evaluation of a Murine Model of Experimental Myopia
Published on: January 22, 2019
Evaluation of MFRP as a candidate gene for high hyperopia
Panfeng Wang1, Zhikuan Yang, Shiqiang Li
1State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China.
Purpose:
Mutations in the membrane-type frizzled-related protein (MFRP) gene have been identified in patients with pathologic high hyperopia associated with nanophthalmos or microphthalmia. This study is to test if a mutation in MFRP is responsible for physiologic high hyperopia.
Methods:
DNA was prepared from venous leukocytes of 51 patients with physiologic high hyperopia (refraction of spherical equivalent > or = +5.00 [diopters] D) and 96 controls (refraction of spherical equivalent between -0.50 D and +1.00 D). The coding regions and adjacent intronic sequence of MFRP were amplified by polymerase chain reaction (PCR) and were then analyzed by cycle sequencing. Variations detected were further evaluated in normal controls and available family members by heteroduplex- single-strand conformation polymorphism (SSCP) analysis or sequencing.
Results:
The average spherical refractive error of patients was +8.41 D in the right eye (from +6.00 D to +16.5 D) and was +8.76 D in the left eye (from +6.00 D to +16.5 D). Five novel heterozygous variations in MFRP, c.55-14_55-13insGTAT, c.496C>G, c.664C>A, c.669G>A, and c.770G>A, were identified. Of these, c.664C>A (p.Pro222Thr) and c.669G>A (p.=) were not observed in the 96 normal controls. In addition, one known c.192C>G substitution and five single nucleotide polymorphisms (SNPs; rs883247, rs3814762, rs36015759, rs2510143, and rs35885438) were detected.
Conclusions:
Several novel variations in MFRP were detected in Chinese. Our results imply that MFRP is less likely to play a major role in physiologic high hyperopia.
Insights
Mutations in the membrane-type frizzled-related protein (MFRP) gene are not a primary cause of physiologic high hyperopia. This study found novel MFRP variations but did not link them to this common refractive error.
Area of Science:
- Ophthalmology
- Human Genetics
- Molecular Biology
Background:
- Mutations in the membrane-type frizzled-related protein (MFRP) gene are associated with pathologic high hyperopia, nanophthalmos, and microphthalmia.
- Physiologic high hyperopia is a common refractive error with multifactorial causes.
Purpose of the Study:
- To investigate the role of MFRP gene mutations in the development of physiologic high hyperopia.
- To determine if variations in MFRP are a significant genetic factor in this condition.
Main Methods:
- DNA analysis of 51 patients with physiologic high hyperopia (spherical equivalent >= +5.00 D) and 96 controls.
- Sequencing of MFRP coding and adjacent intronic regions.
- Evaluation of detected variations in controls and family members using SSCP analysis or sequencing.
Main Results:
- Five novel heterozygous variations in MFRP were identified in patients.
- Two of these novel variations (c.664C>A and c.669G>A) were not found in controls.
- Known MFRP substitutions and single nucleotide polymorphisms (SNPs) were also detected.
Conclusions:
- The study detected several novel variations in the MFRP gene in a Chinese population.
- These findings suggest that MFRP mutations are unlikely to be a major causative factor in physiologic high hyperopia.
