Joubert syndrome (JS) is an autosomal recessive disorder, which is characterized by hypotonia, ataxia, psychomotor delay, and variable occurrences of oculomotor apraxia and neonatal breathing abnormalities. JS is clinically and genetically heterogeneous. The present study investigated a typical JS family. The 'molar tooth sign' was observed in the proband through magnetic resonance imaging. Other symptoms of JS include cerebellar vermis hypoplasia/dysplasia, oculomotor apraxia and intellectual disability. High‑throughput sequencing revealed that JS was caused by coiled‑coil and C2 domain containing 2A (CC2D2A) compound heterozygous mutations. One CC2D2A allele was affected with a missense mutation, c.2581G>A, which led to a p.Asp861Asn amino acid replacement. The other allele was affected with a c.2848C>T nonsense mutation, which resulted in a truncated CC2D2A protein (p.Arg950Ter). Both of these alterations are novel. Further investigation indicated that the proband's father was the c.2581G>A carrier, whereas the mother was the c.2848C>T carrier. These results indicated that JS in the proband was caused by novel compound heterozygous mutations in CC2D2A, which were inherited from both parents. These findings may be used to establish prenatal molecular diagnostic criteria, which may be beneficial in future pregnancies.
Background Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has become a public health emergency of international concern. SARS-CoV-2 RNA detection is the diagnostic criterion for coronavirus disease 2019 (COVID-19). Nevertheless, RNA detection has many limitations, such as being time-consuming and cost-prohibitive, and it must be performed in specialized laboratories. Virus antibody detection is a routine method for screening for multiple viruses, but data about SARS-CoV-2 antibody detection are limited. Method Throat swabs and blood were collected from 67 suspected SARS-CoV-2 infection patients at the Affiliated Hospital of Zunyi Medical University and Zunyi Fourth People’s Hospital isolated observation departments. Throat swab samples were subjected to SARS-CoV-2 RNA detection by real-time PCR. Blood was used subjected to SARS-CoV-2 IgG/IgM detection by an enzyme-linked immunosorbent assay (ELISA) and gold immunochromatography assay (GICA). Blood underwent C-reactive protein detection by immunoturbidimetry, and white blood cells, neutrophil percentages and lymphocyte percentages were counted and calculated, respectively. Clinical symptoms, age and lifestyle habits (smoking and drinking) in all patients were recorded. Data were analysed using SPSS version 19. The results were confirmed by T and χ2 tests; correlations with detection results were analysed by kappa coefficients. Odds ratio (OR) and corrected OR values were analysed by logistic regression. P < 0.05 was considered statistically significant. Results Of the 67 patients included in this study, 26 were SARS-CoV-2 RNA-positive. GICA IgM sensitivity was 50.9% (13/26), and specificity was 90.2% (37/41). ELISA IgM sensitivity was 76.9% (20/26), and specificity was 90.2% (37/41). ELISA IgG sensitivity was 76.9% (20/26), and specificity was 95.1% (39/41). The kappa coefficients between RNA detection and ELISA IgG, ELISA IgM, and GICA IgM results were 0.741 (P < 0.01), 0.681 (P < 0.01) and 0.430 (P < 0.01), respectively. Conclusion Among the candidate blood indicators, serum IgG and IgM detected by ELISA had the best consistency and validity when compared with standard RNA detection; these indicators can be used as potential preliminary screening tools to identify those who should undergo nucleic acid detection in laboratories without RNA detection abilities or as a supplement to RNA detection.
BackgroundSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a new type of virus that firstly confirmed in Wuhan, China recently. SARS-CoV-2 mainly spread through droplets. Infection characteristics data of SARS-CoV-2 is still limited, especially about asymptomatic infection, familial aggregation infection and infection risk in family member.MethodsFrom 2nd January 2020 to 23th February 2020, we have screened 22,729 throat swab samples from individuals with either have contact history of imported personnel, out-of-city travel or residence history or flu-like symptoms during the past 14 days. SARS-CoV-2 RNA was extracted and detected by real-time PCR. Data were analyzed using SPSS version 19 (IBM, Armonk, NY, USA). The results were confirmed by the Pearson χ2 test; P < 0.05 was considered statistically significant.Results35 SARS-CoV-2 positive patients were found, 22 were asymptomatic infection, and 31 were familial aggregation infection. Odds ratio of SARS-CoV-2 infection risk between family aggregated close contacts and overall close contacts was 29.40 (95% confidence interval: 13.99 - 62.205, χ2 = 140.23, P < 0.001); odds ratio of SARS-CoV-2 infection risk between family aggregated close contacts and non-family aggregated close contacts was 703.50 (95% confidence interval: 89.53 - 5527.95, χ2 = 282.659, P < 0.001). One SARS-CoV-2 positive patient infected 2.08 (25/12) people on average under social control without separate isolation.ConclusionsSocial control is effective in SARS-CoV-2 inhibition, but self-isolation and screening should be added as supplementary means to avoid familial aggregation infection and find out asymptomatic patients.
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