OBJECTIVETo explore the clinical features and mutation of TGFBI gene in a Chinese pedigree affected with lattice corneal dystrophy (LCD).

METHODSGenomic DNA was extracted from 35 members including 11 patients from the pedigree. The 17 exons and splicing region of introns of the TGFBI gene were amplified by PCR. The products were directly sequenced and compared with GenBank database to identify potential mutation. Bioinformatic analysis was carried out to predict the effect of mutation on proteins.

RESULTSA heterozygous mutation (p.R124C) was found in exon 4 of the TGFBI gene in all patients from the pedigree but not among unaffected members. The mode of inheritance of corneal dystrophy in this pedigree was identified as autosomal dominant. Bioinformatics analysis predicted that the p.R124C mutation may be functionally deleterious. The phenotype of corneal dystrophy in the pedigree was determined to be LCD I type.

CONCLUSIONThe p.R124C mutation of the TGFBI gene probably underlies the pathogenesis of LCD in this Chinese pedigree. Genetic testing can facilitate proper diagnosis of this type of corneal dystrophy.

Background: Reports on the efficacy of modifications to the thread design of pedicle screws are scarce. The aim of the study was to investigate initial and early fixation of pedicle screws with a plasma-sprayed titanium coating and dual pitch in the pedicle region (dual pitch titanium-coated pedicle screw [DPTCPS]) in a polyetheretherketone (PEEK) rod semi-rigid fixation system. Methods: Fifty-four sheep spine specimens and 64 sheep were used to investigate initial ( "0-week" controls) and early (postoperative 6 months) fixation, respectively. Sheep were divided into dual pitch pedicle screw (DPPS), standard pitch pedicle screw (SPPS), DPTCPS, and standard pitch titanium-coated pedicle screw (SPTCPS) groups. Specimens/sheep were instrumented with four screws and two rods. Biomechanical evaluations were performed, and histology at the implant-bone interface was investigated. Results: At 0-week, mean axial pull-out strength was significantly higher for the DPTCPS and SPTCPS than the SPPS (557.0 ± 25.2 vs. 459.1 ± 19.1 N, t = 3.61, P < 0.05; 622.6 ± 25.2 vs. 459.1 ± 19.1 N, t = 3.43, P < 0.05). On toggle-testing, the DPTCPS was significantly more resistant than the SPPS and SPTCPS (343.4 ± 16.5 vs. 237.5 ± 12.9 N, t = 3.52, P < 0.05; 343.4 ± 16.5 vs. 289.9 ± 12.8 N, t = 3.12, P < 0.05; 124.7 ± 13.5 vs. 41.9 ± 4.3 cycles, t = 2.18, P < 0.05; 124.7 ± 13.5 vs.79.5 ± 11.8 cycles, t = 2.76, P < 0.05). On cyclic loading, maximum displacement was significantly lower for the DPTCPS than the SPPS and SPTCPS (1.8 ± 0.13 vs. 3.76 ± 0.19 mm, t = 2.29, P < 0.05; 1.8 ± 0.13 vs. 2.46 ± 10.20 mm, t = 2.69, P < 0.05). At post-operative 6 months, mean axial pull-out strength was significantly higher for the DPTCPS and SPTCPS than the SPPS (908.4 ± 33.6 vs. 646.5 ± 59.4 N, t = 3.34, P < 0.05; 925.9 ± 53.9 vs. 646.5 ± 59.4 N, t = 3.37, P < 0.05). On toggle-testing, the DPTCPS was significantly more resistant than the SPPS and SPTCPS (496.9 ± 17.9 vs. 370.3 ± 16.4 N, t = 2.86, P < 0.05; 496.9 ± 17.9 vs. 414.1 ± 12.8 N, t = 2.74, P < 0.05; 249.1 ± 11.0 vs.149.9 ± 11.1 cycles, t = 2.54, P < 0.05; 249.1 ± 11.0 vs.199.8 ± 7.2 cycles, t = 2.61, P < 0.05). On cyclic loading, maximum displacement was significantly lower for the DPTCPS than the SPPS and SPTCPS (0.96 ± 0.11 vs. 2.39 ± 0.14 mm, t = 2.57, P < 0.05; 0.96 ± 0.11 vs. 1.82 ± 0.12 mm, t = 2.73, P < 0.05). Resistance to toggle testing (370.3 ± 16.4 vs. 414.1 ± 12.8 N, t = 3.29, P < 0.05; 149.9 ± 11.1 vs.199.8 ± 7.2 cycles, t = 2.97, P < 0.05) was significantly lower and maximum displacement in cyclic loading (2.39 ± 0.14 vs.1.82 ± 0.12 mm; t = 3.06, P < 0.05) was significantly higher for the SPTCPS than the DPTCPS. Bone-to-implant contact was significantly increased for the DPTCPS compared to the SPPS (58.3% ± 7.0% vs. 36.5% ± 4.4%, t = 2.74, P < 0.05); there was no inflammatory reaction or degradation of coated particles. Conclusion DPTCPSs might have stronger initial and early fixation in a PEEK rod semi-rigid fixation system.

In the original publication the grant number is incorrectly published. The correct grant number should be read as "17140901600". The corrected contents are provided in this correction article. This work was partially supported by grants from the National Natural Science Foundation of China (Nos. 81670470 and 81600149), a grant from the Shanghai Municipal Commission for Science and Technology (17140901600, 18411953500 and 15JC1400201) and a grant from National Key Research and Development Program (2016YFC0905100).

Adenosine ; genetics ; Adenosine Deaminase ; genetics ; metabolism ; Animals ; CRISPR-Associated Protein 9 ; genetics ; metabolism ; CRISPR-Cas Systems ; genetics ; Embryo, Mammalian ; metabolism ; Gene Editing ; Genetic Variation ; genetics ; Mice ; Mice, Inbred C57BL ; Rats ; Rats, Sprague-Dawley