Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children

Shen, Yuelin; Liu, Jinrong; Zhao, Lili; Mogayzel, Peter J.; Zeitlin, Pamela L.; Sosnay, Patrick R.; Zhao, Shunying

doi:10.1016/j.jpeds.2015.12.025

Cited by 40 publications

(54 citation statements)

References 41 publications

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“…As to clinical manifestation, respiratory symptoms were those most commonly observed in our cohort, consistent with the results of previous studies performed on CF patients of Chinese origin. [1,3,5] Interestingly, approximately 30% of patients in this study presented ABPA, which was far more than what has been reported in Caucasians (7-9%). [17] Similarly, several recent studies [2,3,5] also have reported a higher rate of ABPA in Chinese patients, ranging from 37.5% to 57.1%.…”

Section: Different Phenotypes and Modifier Gene Genotypes Of Patientscontrasting

confidence: 54%

“…By comparison, only approximately 70 Chinese patients have been reported in the literature. [1] It was believed that CF is extremely rare in the Chinese population; however, more than half of these Chinese patients have been reported in the most recent four or five years, [2][3][4][5][6] suggesting that there might be a significant under-estimation of CF incidence in China.…”

Section: Introductionmentioning

confidence: 99%

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Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis

Liu

Xiao

et al. 2020

Preprint

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Background Cystic fibrosis (CF) is a rare autosomal recessive disorder caused by biallelic mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The clinical features and mutation spectrum of CF have been well characterized in Caucasians, while limited studies were conducted in Chinese patients. Subjects and methods A total of 20 individuals from 19 families were diagnosed with CF in this study. We analyzed the clinical features and screened all coding exons of CFTR using a combination of Sanger sequencing and multiplex ligation-dependent probe amplification analysis. Results The median age at onset was 9.3 years in our cohort, while the median age at diagnosis was 19 years. The respiratory system was most frequently affected in this study: all patients (100%, 19/19) presented diffuse bronchiectasis and 61.1% (11/18) of patients showed a forced expiratory volume in 1 s below 80% predicted. Six patients (6/20, 30%) exhibited allergic bronchopulmonary aspergillosis (ABPA). Only 4 (4/20, 20%) patients presented pancreatic exocrine insufficiency (PI). Three adult male patients receiving examinations for congenital bilateral absence of the vas deferens were all found positive for the condition. A total of 22 distinct mutations were detected in this cohort, with the variant p.G970D as the most common variant (12/38 alleles, 31.6%). Four variants (p.Y109D, p.I203F, p.D572E, and exon 2-3 deletion) were novel, which expanded the mutation spectrum of Chinese CF patients. Conclusions Chinese CF patients showed different clinical features and a distinct CFTR mutation spectrum compared with Caucasians. There is a significant diagnosis delay, suggesting the current underdiagnosis of CF in China.

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Section: Different Phenotypes and Modifier Gene Genotypes Of Patientscontrasting

confidence: 54%

Section: Introductionmentioning

confidence: 99%

Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis

Liu

Xiao

et al. 2020

Preprint

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“…The rate is higher in syndromic cases and patients with conotruncal cardiac anomaly. In patients having conotruncal anomalies, the frequency of deletion was reported as 2.8-4.2% [7,23]. In this study group all deletion positive patients had cardiac anomaly (7.6%; n=5).…”

Section: Discussionmentioning

confidence: 50%

DiGeorge syndrome (Chromosome 22q11.2 deletion syndrome): A historical perspective with review of 66 patients

Celep¹,

Oğur²,

Günal³

et al. 2019

Journal of Surgery and Medicine

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This study is based on a thesis approved by the Council of Higher Education with the decision number YÖK NO: 175304 and formally approved by Ondokuz Mayıs University with the decision number: 19054817-929-E.29544 for data sharing. Etik Kurul Onayı: Bu çalışma YÖK NO: 175304 numaralı kararıyla Yüksek Öğretim Kurulu tarafından onaylanmış ve Ondokuz Mayıs Üniversitesi tarafından resmi olarak 19054817-929-E.29544 sayılı karar ile veri paylaşımı için onaylanmış bir tezi temel almaktadır.

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“…In this study, M470V polymorphism has been observed with a high rate [31]. When the genetic pattern was compared with others, the frequency of the ∆F508 mutation was lower than Northern and Western European countries, although this mutation was the most common mutations in this population.…”

Section: Discussionmentioning

confidence: 56%

Untitled

2017

Russ. Open Med. J.

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Abstract:Objective -This study was designed to analyze the genetic pattern of cystic fibrosis and effects on age, sex and mortality in the Azeri Turkish population in Iran. Material and Methods -This study was a descriptive study that was conducted for cystic fibrosis patients in Azeri Turkish population in Iran from 2001 to 2014. Of 331 patients, the spectrum of cystic fibrosis transmembrane conductance regulator (CFTR) mutations in 263 patients was reviewed. Demographic and genetic data of patients were summarized by descriptive analysis as frequency, percentage, mean and median. Results -The frequency consanguineous marriages was 196 (59.2%) positive and 135 (40.8%) negative with a significant difference (P=0.001). We identified 32 known mutations and 74 kinds of genotypes. The most common mutation and genotype were ∆F508 138 (26.2%) and ∆F508/ ∆F508 41 (15.5%), respectively. The most mortality rate had observed in ∆F508 genotypes. Conclusion -These findings indicate high frequency of consanguinity marriage in this area. A low frequency of the ∆F508 mutation and detection 32 mutations reflect a heterogeneous spectrum of the mutations in this ethnic group. Further examinations are necessary on CFTR gene and affect these items on on age, sex and mortality.

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Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children

Cited by 40 publications

References 41 publications

Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis

Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis

DiGeorge syndrome (Chromosome 22q11.2 deletion syndrome): A historical perspective with review of 66 patients

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