S737F is a new CFTR mutation typical of patients originally from the Tuscany region in Italy
S737F is a new CFTR mutation typical of patients originally from the Tuscany region in Italy
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DOI：
10.1186/s13052-017-0443-z
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发表时间：
2018-01-03
影响因子：
3.6
通讯作者：
Braggion, Cesare
中科院分区：
文献类型：
--
作者：
Terlizzi, Vito;Di Lullo, Antonella Miriam;Braggion, Cesare
背景资料：越来越多的患者被描述为具有许多囊性纤维化跨膜传导调节因子（CFTR）变体，其缺乏明确的基因型-表型相关性。我们评估了患者的临床特征轴承S737 F（p.Ser737Phe）CFTR错义变异和评估的残余功能CFTR蛋白对鼻上皮细胞（NEC）。方法：一个回顾性数据库进行了从个人纯合子或复合杂合子的S737 F变异随后在囊性纤维化（CF）中心的佛罗伦萨。我们进行了合作的患者的鼻腔刷牙，并与那些在儿科CF中心Naples.Results：9/295（3%）携带至少一个等位基因上的S737 F CFTR变异的患者的结果进行了比较。9例患者中有7例通过新生儿筛查确诊，2例确诊为脱水伴低氯代谢性碱中毒;诊断时，仅1例汗液氯化物水平（SCL）在病理范围内。平均随访8.6年（范围0.5 - 15.8）后，8/9例患者的SCL处于病理范围内（CF诊断时平均年龄：1.5岁），所有患者均为胰腺功能充足且呼吸功能正常。NEC的门控活性为15。结论：S737 F是CFTR基因突变，与儿童期低血糖症、青少年期轻度CF表型及CFTR蛋白残馀功能有关。
Background: An increasing number of patients have been described as having a number of Cystic Fibrosis Transmembrane conductance Regulator (CFTR) variants for which it lacks a clear genotype-phenotype correlation. We assesses the clinical features of patients bearing the S737F (p.Ser737Phe) CFTR missense variant and evaluated the residual function of CFTR protein on nasal epithelial cells (NEC).Methods: A retrospective database was performed from individuals homozygous or compound heterozygous for the S737F variant followed in the Cystic Fibrosis (CF) Centre of Florence. We performed a nasal brushing in cooperating patients and compared the results with those of patients followed in the pediatric CF Centre of Naples.Results: 9/295 (3%) subjects carrying at least S737F CFTR variant on one allele were identified. Patients were diagnosed in 7/9 cases by newborn screening and in two cases for dehydration with hypochloremic metabolic alkalosis; at diagnosis sweat chloride levels (SCL) were in the pathological range in only one case. After a mean follow up of 8,6 years (range 0,5-15,8), SCL were in the pathological range in 8/9 cases (mean age at CF diagnosis: 1,5 years), all patients were pancreatic sufficiency and respiratory function was normal. The gating activity on NEC was 15. 6% and 12.7% in two patients compound heterozygous for W1282X and DelE22_24, while it was ranged between 6,2% and 9,8% in CF patients.Conclusions: S737F is a CFTR mutation associated to hypochloremic alkalosis in childhood, mild CF phenotype in teenage years and a residual function of CFTR protein.