Kana Ram Jat, Madhumita Roy Chowdhury, Nitin Dhochak, Rakesh Lodha, Sneha Varkki, Prawin Kumar, Jagdish Goyal, Javeed Iqbal Bhatt, S K Kabra
{"title":"印度儿童囊性纤维化的基因型-表型相关性:一项多中心研究","authors":"Kana Ram Jat, Madhumita Roy Chowdhury, Nitin Dhochak, Rakesh Lodha, Sneha Varkki, Prawin Kumar, Jagdish Goyal, Javeed Iqbal Bhatt, S K Kabra","doi":"10.1111/cge.70063","DOIUrl":null,"url":null,"abstract":"<p><p>The study aimed to report genotype-phenotype correlation in children with cystic fibrosis. This prospective multicentric study was done at four centres. Variants were tested for two common variants, followed by exome sequencing using NGS. Patients with cystic fibrosis who have one or more pathogenic/likely pathogenic variants were included in this study. The study included 260 children. Boys were more common (70.6% vs. 55.3%), and consanguinity was more prevalent (31.7% vs. 14.2%) in patients with non-c.1520_1522del variants. The 3849+10kbC>T variant had less pancreatic insufficiency, a higher age at diagnosis, and lower sweat chloride values compared to the c.1520_1522del variant. The median (IQR) age at diagnosis was significantly lower [1.5 (0.5, 7) vs. 4 (1.1, 9.4 years)], and pancreatic insufficiency (80.4% vs. 66.4%) and consanguinity (44% vs. 7.1%) were significantly more frequent in patients with homozygous variants compared to compound heterozygous variants. There was no difference in the proportion of Pseudomonas or Staphylococcus colonisation, spirometry parameters or frequency of bronchiectasis amongst various genetic groups. To conclude, the proportion of boys and consanguinity was higher with non-c.1520_1522del variants. The 3849+10kbC>T variant exhibited some peculiar phenotypic features. The patients with homozygous variants were younger at diagnosis and had higher pancreatic insufficiency.</p>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":" ","pages":""},"PeriodicalIF":2.3000,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genotype-Phenotype Correlation in Children With Cystic Fibrosis From India: A Multicentric Study.\",\"authors\":\"Kana Ram Jat, Madhumita Roy Chowdhury, Nitin Dhochak, Rakesh Lodha, Sneha Varkki, Prawin Kumar, Jagdish Goyal, Javeed Iqbal Bhatt, S K Kabra\",\"doi\":\"10.1111/cge.70063\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The study aimed to report genotype-phenotype correlation in children with cystic fibrosis. This prospective multicentric study was done at four centres. Variants were tested for two common variants, followed by exome sequencing using NGS. Patients with cystic fibrosis who have one or more pathogenic/likely pathogenic variants were included in this study. The study included 260 children. Boys were more common (70.6% vs. 55.3%), and consanguinity was more prevalent (31.7% vs. 14.2%) in patients with non-c.1520_1522del variants. The 3849+10kbC>T variant had less pancreatic insufficiency, a higher age at diagnosis, and lower sweat chloride values compared to the c.1520_1522del variant. The median (IQR) age at diagnosis was significantly lower [1.5 (0.5, 7) vs. 4 (1.1, 9.4 years)], and pancreatic insufficiency (80.4% vs. 66.4%) and consanguinity (44% vs. 7.1%) were significantly more frequent in patients with homozygous variants compared to compound heterozygous variants. There was no difference in the proportion of Pseudomonas or Staphylococcus colonisation, spirometry parameters or frequency of bronchiectasis amongst various genetic groups. To conclude, the proportion of boys and consanguinity was higher with non-c.1520_1522del variants. The 3849+10kbC>T variant exhibited some peculiar phenotypic features. The patients with homozygous variants were younger at diagnosis and had higher pancreatic insufficiency.</p>\",\"PeriodicalId\":10354,\"journal\":{\"name\":\"Clinical Genetics\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.3000,\"publicationDate\":\"2025-09-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/cge.70063\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/cge.70063","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Genotype-Phenotype Correlation in Children With Cystic Fibrosis From India: A Multicentric Study.
The study aimed to report genotype-phenotype correlation in children with cystic fibrosis. This prospective multicentric study was done at four centres. Variants were tested for two common variants, followed by exome sequencing using NGS. Patients with cystic fibrosis who have one or more pathogenic/likely pathogenic variants were included in this study. The study included 260 children. Boys were more common (70.6% vs. 55.3%), and consanguinity was more prevalent (31.7% vs. 14.2%) in patients with non-c.1520_1522del variants. The 3849+10kbC>T variant had less pancreatic insufficiency, a higher age at diagnosis, and lower sweat chloride values compared to the c.1520_1522del variant. The median (IQR) age at diagnosis was significantly lower [1.5 (0.5, 7) vs. 4 (1.1, 9.4 years)], and pancreatic insufficiency (80.4% vs. 66.4%) and consanguinity (44% vs. 7.1%) were significantly more frequent in patients with homozygous variants compared to compound heterozygous variants. There was no difference in the proportion of Pseudomonas or Staphylococcus colonisation, spirometry parameters or frequency of bronchiectasis amongst various genetic groups. To conclude, the proportion of boys and consanguinity was higher with non-c.1520_1522del variants. The 3849+10kbC>T variant exhibited some peculiar phenotypic features. The patients with homozygous variants were younger at diagnosis and had higher pancreatic insufficiency.
期刊介绍:
Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice.
Topics of particular interest are:
• Linking genetic variations to disease
• Genome rearrangements and disease
• Epigenetics and disease
• The translation of genotype to phenotype
• Genetics of complex disease
• Management/intervention of genetic diseases
• Novel therapies for genetic diseases
• Developmental biology, as it relates to clinical genetics
• Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease