Genotype-Phenotype Correlation in Children With Cystic Fibrosis From India: A Multicentric Study.

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Kana Ram Jat, Madhumita Roy Chowdhury, Nitin Dhochak, Rakesh Lodha, Sneha Varkki, Prawin Kumar, Jagdish Goyal, Javeed Iqbal Bhatt, S K Kabra
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Abstract

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.

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
该研究旨在报道囊性纤维化儿童的基因型-表型相关性。这项前瞻性多中心研究在四个中心进行。对两种常见变异进行变异检测,然后使用NGS进行外显子组测序。具有一种或多种致病/可能致病变异的囊性纤维化患者被纳入本研究。这项研究包括260名儿童。男孩更常见(70.6%比55.3%),非c型患者的血亲关系更普遍(31.7%比14.2%)。1520年_1522del变体。与c.1520_1522del变体相比,3849+10kbC b> T变体胰腺功能不全较少,诊断时年龄较高,汗液氯化物值较低。诊断时的中位年龄(IQR)明显更低[1.5(0.5,7)对4(1.1,9.4)岁],纯合子变异患者的胰腺功能不全(80.4%对66.4%)和血亲(44%对7.1%)的发生率明显高于复合杂合子变异患者。假单胞菌或葡萄球菌定植比例、肺量测定参数或支气管扩张频率在不同遗传组之间无差异。综上所述,非c的男孩和血亲比例较高。1520年_1522del变体。3849+10kbC >t变异表现出一些特殊的表型特征。纯合子变异体患者在诊断时较年轻,胰腺功能不全发生率较高。
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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
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
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