A novel small deletion in CWC27 gene associated with CWC27-related spliceosomeopathy.

BACKGROUND: CWC27-related spliceosomeopathy is a rare autosomal recessive disorder with only 14 patients have been reported. It is characterized by retinal degeneration, short stature, skeletal anomalies, and neurological defects. We described the clinical features of a Chinese patient with CWC27-related spliceosomeopathy and identified the pathogenic variant. METHODS: The affected subject underwent detailed ophthalmic examinations. Systemic abnormalities were assessed, including body height, craniofacial morphology, oral cavity, hands, feet, hair and skin. Genomic DNA was isolated from peripheral blood and sequenced by next-generation sequencing. Sanger sequencing was performed for validation and segregation. RESULTS: The patient had poor vision, nyctalopia and nystagmus from childhood. Fundoscopy revealed extensive chorioretinal atrophy with numerous scattered greyish pigmentation. Severe circular areas of macular atrophy were observed. Optical coherent tomography showed reduced retinal thickness with nearly absent ellipsoid zone and retinal pigment epithelium. In addition, craniofacial abnormalities, short statue, brachydactyly, dental anomalies, cafe-au-lait spots, scant hair, absent eyebrows and thin eyelashes were documented. Genetic analysis revealed a novel homozygous novel small deletion c.1133delG(p.G378Efs*12) in CWC27 (NM_005869.2). CONCLUSIONS: We present a patient with early-onset retinitis pigmentosa and marked syndromic features. A novel CWC27 pathogenic variant was identified. Our findings broaden the clinical and mutation spectrum of CWC27-related spliceosomeopathy, and could be helpful in diagnosis of this rare disease.

Comparing forceps and self-assembled intraocular rare earth magnet in removing metallic intraocular foreign bodies in 25-guage vitrectomy.

PURPOSE: To compare the efficacy and efficiency of self-assembled intraocular rare earth magnet and forceps in removing intraocular foreign bodies(IOFBs) undergoing 25-gauge(G) pars plana vitrectomy. METHODS: A total of 30 patients with metallic IOFB underwent 25-G PPV were enrolled into this study. Self-assembled intraocular rare earth magnet were used in 15 patients(bar group), and forceps were used in 15 patients(forceps group). Success rate of removing IOFB, time taken to remove IOFB, incidence of IOFB slippage and fall, iatrogenic retinal damages were compared between the two groups. RESULTS: There was no significant difference in success rate of removing IOFBs between the groups(93.3% and 100%, P > 0.99). The median time taken of removing FB was significantly shorter in bar group than in forceps group(112 and 295 s, P = 0.001). None of the patients in bar group had IOFB slippage and fall, or related iatrogenic retinal damage in the process of removal. In forceps group, IOFB slippage and fall during removal were observed in 7 of 15(47.6%) patients, related iatrogenic retinal injuries were recorded in 6 of 15(40.0%) patients, both were significantly higher than bar group(P = 0.003 and P = 0.017, respectively). CONCLUSIONS: Compared with forceps, the assembled intraocular magnet can greatly reduce the possibility of IOFB slippage and fall, prevent related iatrogenic retinal damage, and shorten the time taken to remove IOFB. The assembled intraocular magnet can be an useful tool in removing metallic IOFBs in PPV.

Plant growth, physiological variation and homological relationship of Cyclocarya species in ex situ conservation.

Natural forests of Cyclocarya paliurus have been seriously damaged because of the extreme demand for leaf medicinal uses, making conservation of this valuable, medicinal woody species necessary. Because of geographical differentiation and diverse adaptability, in this study we analysed the variations in plant growth and physiological response to environmental factors at a resource plantation of ex situ conservation and determined the homological relationships between local provenance (from Fujian Province, FJ) and introduced provenances showing high-survival rate and better growth (from Zhejiang, Hubei, Guizhou and Jiangxi Province). Our results suggested the following: (i) Plant growth: FJ had the highest plant height but not the largest basal diameter in comparison to that of other provenances. (ii) Physiological responses during the growth periods: water content in leaf of FJ had similar change with that of other provenances, except for the provenance from Guizhou Province; total soluble sugar content in leaf of FJ was more than that of other provenances; calcium content in leaf of all provenances was higher as compared to K, Mg and Na; the highest activity among four kinds of antioxidant enzymes in all provenances was superoxide dismutase, then was polyphenol oxidase and peroxidase, finally was catalase; and total flavonoid among three kinds of secondary metabolites in all provenances showed the greatest content, followed by polysaccharides and total triterpenoid. (iii) Relation analysis: plant growth and physiological responses related with environmental factors, especially temperature and precipitation. (iv) Homological relationships: leaf characteristics among six provenances varied in colour, area and common petiole length, but not the shape of leaf base or apex. Cyclocarya paliurus distributed in Fujian Province showed a very close homological relationship with that distributed in Zhejiang Province by simple sequence repeat. These findings will provide knowledge on physiological response to environmental factors and aid to select suitable provenances for Cyclocarya cultivation.