The CFTR gene variants in Japanese children with idiopathic pancreatitis.,Human Genome Variation

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The CFTR gene variants in Japanese children with idiopathic pancreatitis.
Human Genome Variation ( IF 1.0 ) Pub Date : 2019-04-11 , DOI: 10.1038/s41439-019-0049-7
Manami Iso _{1,

2} , Mitsuyoshi Suzuki ₁ , Kumiko Yanagi ₂ , Kei Minowa ₁ , Yumiko Sakurai ₁ , Satoshi Nakano ₁ , Kazuhito Satou ₂ , Toshiaki Shimizu ₁ , Tadashi Kaname ₂

Affiliation

The cystic fibrosis transmembrane conductance regulator (CFTR) gene has been reported as one of the pancreatitis susceptibility genes. Although many variants of CFTR have been reported in Caucasian patients, there are few data in Japanese patients. We aimed to survey CFTR variants in Japanese children with idiopathic pancreatitis. Twenty-eight Japanese paediatric patients with idiopathic pancreatitis were enroled, who were not previously diagnosed by genetic analysis of PRSS1 and SPINK1. The entire CFTR gene was sequenced in the patients by combining LA-PCR and next-generation sequencing analysis. To determine a splice-affecting variant, CFTR expression was investigated in the nasal epithelial cells by RT-PCR. One (3.6%) and 15 (53.6%) of 28 patients had pathogenic and functionally affected variants in the CFTR gene, respectively. Two variants, p.Arg352Gln and p.Arg1453Trp, were found more frequently in the patients compared with one in Japanese healthy controls (p = 0.0078 and 0.044, respectively). We confirmed skipping of exon 10 in the nasal epithelial cells in one patient having a splice-affecting variant (c.1210-12 T(5)) in intron 9. Functionally affected variants of the CFTR gene are not so rare in Japanese paediatric patients with idiopathic pancreatitis. Surveying CFTR gene variants in a Japanese sample could help identify pancreatitis risk in these children.

中文翻译：

日本特发性胰腺炎患儿的CFTR基因变异。

据报道，囊性纤维化跨膜电导调节剂（CFTR）基因是胰腺炎易感基因之一。尽管在白种人患者中已经报道了CFTR的许多变体，但日本患者的数据却很少。我们旨在调查日本特发性胰腺炎儿童的CFTR变异体。入选了28名日本特发性胰腺炎的小儿患者，他们以前没有通过PRSS1和SPINK1的基因分析被诊断出。通过将LA-PCR和下一代测序分析相结合，对患者的整个CFTR基因进行了测序。为了确定影响剪接的变异体，通过RT-PCR研究了CFTR在鼻上皮细胞中的表达。28位患者中的1位（3.6％）和15位（53.6％）分别具有CFTR基因的病原性和功能性变异。第2页，共2页。与日本健康对照组中的一个相比，在患者中发现Arg352Gln和p.Arg1453Trp的频率更高（分别为p = 0.0078和0.044）。我们确认一名内含子9具有剪接影响变异体（c.1210-12 T（5））的患者在鼻上皮细胞中跳过了第10外显子，在日本儿科患者中CFTR基因功能上受到影响的变异体并不罕见患有特发性胰腺炎。对日本样本中的CFTR基因变异进行调查可能有助于确定这些儿童的胰腺炎风险。在日本特发性胰腺炎小儿患者中，CFTR基因功能上受到影响的变体并不罕见。对日本样本中的CFTR基因变异进行调查可能有助于确定这些儿童的胰腺炎风险。在日本特发性胰腺炎小儿患者中，CFTR基因功能上受到影响的变体并不罕见。对日本样本中的CFTR基因变异进行调查可能有助于确定这些儿童的胰腺炎风险。

更新日期：2019-11-18

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