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16例携带错义突变R334W的囊性纤维化患者的临床特征，该突变是一种胰腺功能不全突变，发病年龄可变且存在家族间临床差异。

Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences.

作者信息

Estivill X, Ortigosa L, Pérez-Frias J, Dapena J, Ferrer J, Peña L, Peña L, Llevadot R, Giménez J, Nunes V

机构信息

Molecular Genetics Department (I.R.O.), Hospital Duran i Reynals, Barcelona, Spain.

出版信息

Hum Genet. 1995 Mar;95(3):331-6. doi: 10.1007/BF00225203.

DOI:10.1007/BF00225203
PMID:7868128
Abstract

We present the genotype/phenotype correlation analysis for 16 cystic fibrosis (CF) patients who carry mutation R334W. Current age and age of diagnosis was significantly higher in the R334W/any-mutation group (P < 0.05 and P < 0.01), compared with the delta F508/delta F508 group. A slightly, but not significantly, worse lung function was found in the R334W/any-mutation group, when compared with the delta F508/delta F508 patients. The proportion of patients with lung colonization with bacterial pathogens was slightly, but not significantly, higher in the R334W/any-mutation group (71.4%), compared with the delta F508/delta F508 or R334W/delta F508 groups (55.5%). None of the R334W patients had meconium ileus but 60% were pancreatic insufficient (PI), a significantly lower proportion (P << 0.001) than delta F508/delta F508 patients. Two R334W/N1303K compound heterozygous sisters of three sibs with genotype R334W/delta F508 showed interfamilial discordant clinical data for lung and pancreatic function. The data provided here for mutation R334W demonstrate that this mutation is responsible for a less severe form of CF than delta F508. Interfamilial differences for PI and lung function suggest that other factors, viz. genetic, environmental and medical, contribute to the wide spectrum of clinical differences observed in CF patients with the same CF transmembrane conductance regulator genotypes.

摘要

我们对16名携带R334W突变的囊性纤维化（CF）患者进行了基因型/表型相关性分析。与ΔF508/ΔF508组相比，R334W/任何突变组的当前年龄和诊断年龄显著更高（P < 0.05和P < 0.01）。与ΔF508/ΔF508患者相比，R334W/任何突变组的肺功能略差，但差异不显著。与ΔF508/ΔF508或R334W/ΔF508组（55.5%）相比，R334W/任何突变组中细菌病原体肺部定植患者的比例略高（71.4%），但差异不显著。没有R334W患者发生胎粪性肠梗阻，但60%存在胰腺功能不全（PI），这一比例显著低于ΔF508/ΔF508患者（P << 0.001）。在三个基因型为R334W/ΔF508的同胞中，有两个R334W/N1303K复合杂合子姐妹在肺部和胰腺功能方面表现出家族间不一致的临床数据。这里提供的关于R334W突变的数据表明，与ΔF508相比，该突变导致的CF病情较轻。PI和肺功能的家族间差异表明，其他因素，即遗传、环境和医疗因素，导致了具有相同CF跨膜传导调节因子基因型的CF患者出现广泛的临床差异。

相似文献

1
Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences.16例携带错义突变R334W的囊性纤维化患者的临床特征，该突变是一种胰腺功能不全突变，发病年龄可变且存在家族间临床差异。
Hum Genet. 1995 Mar;95(3):331-6. doi: 10.1007/BF00225203.
2
Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.携带密码子551处常见错义突变甘氨酸→天冬氨酸以及ΔF508突变的囊性纤维化患者，除胎粪性肠梗阻风险降低外，在临床上与ΔF508纯合子无法区分。
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The CFTR 3849+10kbC->T and 2789+5G->A alleles are associated with a mild CF phenotype.CFTR基因3849+10kbC→T和2789+5G→A等位基因与轻度囊性纤维化（CF）表型相关。
Eur Respir J. 2005 Mar;25(3):468-73. doi: 10.1183/09031936.05.10100004.
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[Correlation between phenotype and genotype in a group of patients with cystic fibrosis].一组囊性纤维化患者的表型与基因型之间的相关性
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Endocrine and exocrine pancreatic function and the delta F508 mutation in cystic fibrosis.囊性纤维化患者的内分泌和外分泌胰腺功能以及ΔF508突变
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Correlation between genotype and phenotype in patients with cystic fibrosis.囊性纤维化患者的基因型与表型之间的相关性。
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[A study evaluating the correlation between the phenotype and genotype among 65 cystic fibrosis patients].一项评估65例囊性纤维化患者表型与基因型之间相关性的研究
Pediatr Pol. 1995 Aug;70(8):633-8.
8
Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W.12例携带囊性纤维化R334W突变患者的基因型-表型关系
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Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.13名囊性纤维化患者，12名是错义突变G85E的复合杂合子，1名是该突变的纯合子：这是一种具有可变临床表现的胰腺功能充足/不足突变。
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Genotype-phenotype relationship in Iranian patients with cystic fibrosis.伊朗囊性纤维化患者的基因型-表型关系
Turk J Gastroenterol. 2015 May;26(3):241-3. doi: 10.5152/tjg.2015.5945.

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本文引用的文献

1
Correlation between genotype and phenotype in patients with cystic fibrosis.囊性纤维化患者的基因型与表型之间的相关性。
N Engl J Med. 1993 Oct 28;329(18):1308-13. doi: 10.1056/NEJM199310283291804.
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Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.囊性纤维化的微卫星单倍型：突变框架与进化追踪标记
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Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis.囊性纤维化中CFTR氯离子通道功能障碍的分子机制
Functional Profiling of CFTR-Directed Therapeutics Using Pediatric Patient-Derived Nasal Epithelial Cell Models.
使用儿科患者来源的鼻上皮细胞模型对CFTR导向疗法进行功能分析
Front Pediatr. 2020 Sep 4;8:536. doi: 10.3389/fped.2020.00536. eCollection 2020.
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Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W.12例携带囊性纤维化R334W突变患者的基因型-表型关系
J Med Genet. 1997 Feb;34(2):89-91. doi: 10.1136/jmg.34.2.89.
5
Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.13名囊性纤维化患者，12名是错义突变G85E的复合杂合子，1名是该突变的纯合子：这是一种具有可变临床表现的胰腺功能充足/不足突变。
J Med Genet. 1996 Oct;33(10):820-2. doi: 10.1136/jmg.33.10.820.
6
Severe cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote.ΔF508/3272-26A→G复合杂合子中的严重囊性纤维化表型
J Med Genet. 1995 Nov;32(11):919. doi: 10.1136/jmg.32.11.919.
7
Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected.对40例先天性输精管缺如的不育患者进行的广泛分析：在50%的病例中，仅能检测到一个CFTR等位基因。
Hum Genet. 1995 Feb;95(2):205-11. doi: 10.1007/BF00209403.
Cell. 1993 Jul 2;73(7):1251-4. doi: 10.1016/0092-8674(93)90353-r.
4
A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.CFTR基因第一个跨膜结构域中的一个新的错义突变（E92K）导致良性囊性纤维化表型。
Hum Mol Genet. 1993 Jan;2(1):79-80. doi: 10.1093/hmg/2.1.79.
5
Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties.与具有改变的孔道特性的轻度疾病形式氯离子通道相关的囊性纤维化跨膜传导调节因子（CFTR）突变。
Nature. 1993 Mar 11;362(6416):160-4. doi: 10.1038/362160a0.
6
Population variation of common cystic fibrosis mutations. The Cystic Fibrosis Genetic Analysis Consortium.常见囊性纤维化突变的人群变异。囊性纤维化基因分析联盟。
Hum Mutat. 1994;4(3):167-77. doi: 10.1002/humu.1380040302.
7
Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.囊性纤维化突变R334W、R347P、R1162X和3849 + 10kbC→T的独立起源为CFTR基因中的突变复发提供了证据。
Am J Hum Genet. 1994 Nov;55(5):890-8.
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Mutation analysis in 600 French cystic fibrosis patients.对600名法国囊性纤维化患者的突变分析。
J Med Genet. 1994 Jul;31(7):541-4. doi: 10.1136/jmg.31.7.541.
9
Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).西班牙人群中CFTR基因的分析：对60种已知突变进行单链构象多态性筛查并鉴定出四种新突变（Q30X、A120T、1812-1 G→A和3667del4）。
Hum Mutat. 1994;3(3):223-30. doi: 10.1002/humu.1380030308.
10
Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.对囊性纤维化跨膜传导调节因子（CFTR）基因的分析证实了西班牙人群中存在高度的遗传异质性：43种突变仅占囊性纤维化（CF）染色体的78%。
Hum Genet. 1994 Apr;93(4):447-51. doi: 10.1007/BF00201673.