MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort

2020 ◽  
Vol 98 (3) ◽  
pp. 240-250
Author(s):  
Yongxin Wen ◽  
Jiaping Wang ◽  
Qingping Zhang ◽  
Yan Chen ◽  
Xiru Wu ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Mutation Spectrum ◽  
Mecp2 Mutation ◽  
Chinese Cohort

scholarly journals Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype–phenotype analysis

2021 ◽  
pp. bjophthalmol-2021-319084
Author(s):  
Zexu Chen ◽  
Tianhui Chen ◽  
Min Zhang ◽  
Jiahui Chen ◽  
Michael Deng ◽  
...  
Keyword(s):  
Calcium Binding ◽  
Gene Mutations ◽  
Mutation Spectrum ◽  
Missense Mutations ◽  
Ectopia Lentis ◽  
Phenotype Analysis ◽  
Chinese Cohort ◽  
Fibrillin 1 ◽  
Epidermal Growth ◽  
Dependent Probe

AimsTo identify the mutation spectrum and genotype–phenotype correlations of fibrillin-1 (FBN1) mutations in a Chinese cohort with congenital ectopia lentis (EL).MethodsPatients clinically suspected of congenital zonulopathy were screened using panel-based next-generation sequencing followed by multiplex ligation-dependent probe amplification. All the probands were subjected to thorough ocular examinations. Molecular and clinical data were integrated in pursuit of genotype–phenotype correlation.ResultsA total of 131 probands of FBN1 mutations from unrelated families were recruited. Around 65% of the probands were children younger than 9 years old. Overall, 110 distinct FBN1 mutations were identified, including 39 novel ones. The most at-risk regions were exons 13, 2, 6, 15, 24 and 33 in descending order of mutation frequency. The most prevalent mutation was c.184C>T (seven, 5.34%) in the coding sequence and c.5788+5G>A (three, 2.29%) in introns. Missense mutations were the most frequent type (103, 78.63%); half of which were distributed in the N-terminal regions (53, 51.46%). The majority of missense mutations were detected in one of the calcium-binding epidermal growth factor-like domains (62, 60.19%), and 39 (62.90%) of them were substitutions of conserved cysteine residues. Microspherophakia (MSP) was found in 15 patients (11.45%). Mutations in the middle region (exons 22–42), especially exon 26, had higher risks of combined MSP (OR, 5.51 (95% CI 1.364 to 22.274), p=0.017).ConclusionsThis study extended the knowledge of the FBN1 mutation spectrum and provided novel insights into its clinical correlation regarding EL and MSP in the Chinese population.

Charcot–Marie–Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence

2018 ◽  
Vol 28 (8) ◽  
pp. 639-645 ◽  
Author(s):  
Kjell Arne Arntzen ◽  
Helle Høyer ◽  
Kristin Ørstavik ◽  
Chantal Tallaksen ◽  
Christian Vedeler ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Disease Type ◽  
Mutation Spectrum ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Pulmonary involvement of ANCA-associated vasculitis in adult Chinese patients

2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Peining Zhou ◽  
Zhiying Li ◽  
Li Gao ◽  
Chengli Que ◽  
Haichao Li ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Pulmonary Involvement ◽  
Chinese Patients ◽  
Newly Diagnosed ◽  
Radiological Features ◽  
Anca Associated Vasculitis ◽  
Chinese Cohort ◽  
Long Term Prognosis ◽  
Pulmonary Granuloma

Abstract Objective The aim of this study was to clarify the clinical characteristics and long-term outcomes of ANCA-associated vasculitis (AAV) patients with pulmonary involvement from a single Chinese cohort. Methods Newly diagnosed AAV patients with pulmonary involvement, as defined by CT, were recruited from January 2010 to June 2020. Clinical data and CT images were collected retrospectively. Baseline CTs were evaluated and re-classified into four categories: interstitial lung disease (ILD), airway involvement (AI), alveolar hemorrhage (AH), and pulmonary granuloma (PG). Results A total of 719 patients were newly diagnosed with AAV, 366 (50.9%) of whom combined with pulmonary involvement at baseline. Among the AAV cases with pulmonary involvement, 55.7% (204/366) had ILD, 16.7% (61/366) had AI alone, 14.8% (54/366) had PG, and 12.8% (47/366) had AH alone. During follow-up of a median duration of 42.0 months, 66/366 (18.0%) patients died, mainly died from infections. Survival, relapse, and infection were all significantly different based on the radiological features. Specifically, the ILD group tends to have a poor long-term prognosis, the PG group is prone to relapse, and the AI group is apt to infection. The AH group has a high risk of both early infection and relapse, thus a poor short-term prognosis. Conclusion AAV patients with diverse radiological features have different clinical characteristics and outcomes. Therefore, the intensity of immunosuppressive therapy must be carefully valued by considering the baseline CT findings among AAV patients with pulmonary involvement.

scholarly journals Clinical characteristics of optic neuritis phenotypes in a 3-year follow-up Chinese cohort

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Chaoyi Feng ◽  
Qian Chen ◽  
Guixian Zhao ◽  
Zhenxin Li ◽  
Weimin Chen ◽  
...  
Keyword(s):  
Optic Neuritis ◽  
Clinical Characteristics ◽  
Plexiform Layer ◽  
Inner Plexiform Layer ◽  
Fiber Layer ◽  
Corrected Visual Acuity ◽  
Chinese Cohort ◽  
Relapse Rates ◽  
New Onset

AbstractTo evaluate the clinical characteristics of optic neuritis (ON) with different phenotypes. This prospective study recruited patients with new-onset ON between January 2015 and March 2017 who were followed-up for 3 years. They were divided into the myelin oligodendrocyte glycoprotein-seropositive (MOG-ON), aquaporin-4-seropositive (AQP4-ON), and double-seronegative (seronegative-ON) groups, and their clinical characteristics and imaging findings were evaluated and compared. Two-hundred-eighty patients (405 eyes) were included (MOG-ON: n = 57, 20.4%; AQP4-ON: n = 98, 35.0%; seronegative-ON: n = 125, 44.6%). The proportion of eyes with best-corrected visual acuity > 20/25 at the 3-year follow-up was similar between the MOG-ON and seronegative-ON groups; the proportion in both groups was higher than that in the AQP4-ON group (p < 0.001). Relapse rates were higher in the MOG-ON and AQP4-ON groups than in the seronegative-ON group (p < 0.001). Average retinal nerve fiber layer (RNFL) thickness at 3 years was similar between the MOG-ON and AQP4-ON groups (63.41 ± 13.39 and 59.40 ± 11.46 μm, p = 0.476) but both were thinner than the seronegative-ON group (74.06 ± 11.14 μm, p < 0.001). Macular ganglion cell-inner plexiform layer (GCIPL) revealed the same pattern. Despite RNFL and GCIPL thinning, the MOG-ON group’s outcome was as favorable as that of the seronegative-ON group, whereas the AQP4-ON group showed unsatisfactory results.

scholarly journals Pulmonary Involvement of ANCA-associated Vasculitis in Adult Chinese Patients.

2021 ◽  
Author(s):  
Peining Zhou ◽  
Zhiying Li ◽  
Li Gao ◽  
Chengli Que ◽  
Haichao Li ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Pulmonary Involvement ◽  
Chinese Patients ◽  
Newly Diagnosed ◽  
Radiological Features ◽  
Anca Associated Vasculitis ◽  
Chinese Cohort ◽  
Long Term Prognosis ◽  
Pulmonary Granuloma

Abstract Objective: The aim of this study was to clarify the clinical characteristics and long-term outcomes of ANCA-associated vasculitis (AAV) patients with pulmonary involvement from a single Chinese cohort. Methods: Newly diagnosed AAV patients with pulmonary involvement, as defined by CT, were recruited from January 2010 to June 2020. Clinical data and CT images were collected retrospectively. Baseline CTs were evaluated and re-classified into four categories: interstitial lung disease (ILD), airway involvement (AI), alveolar hemorrhage (AH), and pulmonary granuloma (PG). Results: A total of 719 patients were newly diagnosed with AAV, 366 (50.9%) of whom combined with pulmonary involvement at baseline. Among the AAV cases with pulmonary involvement, 55.7% (204/366) had ILD, 16.7% (61/366) had AI alone, 14.8% (54/366) had PG, and 12.8% (47/366) had AH alone. During follow-up of a median duration of 42.0 months, 66/366 (18.0%) patients died, mainly died from infections. Survival, relapse, and infection were all significantly different based on the radiological features. Specifically, the ILD group tends to have a poor long-term prognosis, the PG group is prone to relapse, and the AI group is apt to infection. The AH group has a high risk of both early infection and relapse, thus a poor short-term prognosis.Conclusion: AAV patients with diverse radiological features have different clinical characteristics and outcomes. Therefore, the intensity of immunosuppressive therapy must be carefully valued by considering the baseline CT findings among AAV patients with pulmonary involvement.

scholarly journals Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey

Medicine ◽  
2017 ◽  
Vol 96 (29) ◽  
pp. e7387 ◽  
Author(s):  
Jin-Ho Choi ◽  
Beom Hee Lee ◽  
Sun Hee Heo ◽  
Gu-Hwan Kim ◽  
Yoo-Mi Kim ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Clinical Characteristics ◽  
Nationwide Survey ◽  
Mutation Spectrum ◽  
Korean Patients

scholarly journals Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

2016 ◽  
Vol 57 (15) ◽  
pp. 6861 ◽  
Author(s):  
Marianne N. Hove ◽  
Kevser Z. Kilic-Biyik ◽  
Alana Trotter ◽  
Karen Grønskov ◽  
Birgit Sander ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Night Blindness ◽  
Mutation Spectrum ◽  
Eye Disease ◽  
Congenital Stationary Night Blindness
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