一个诊断困境:同时诊断囊性纤维化和绝对卡布基综合征1型
Tatyana Vasilyeva1, Nataliya Kashirskaya1, Anna Mukhina1,2
1Research Centre for Medical Genetics, Moscow 115522, Russia.
International journal of molecular sciences
|March 14, 2026
概括
这项案例研究证实了使用分子遗传分析对9岁女孩的卡布基综合征1型. 该患者呈现出特征特征和一个de novo KMT2D基因变异,排除了CFTR相关疾病.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 分子生物学分子生物学
背景情况:
- 卡布基综合征是一种罕见的遗传疾病,具有特征的面部特征,发育迟缓和器官形.
- 多种遗传性疾病的同时存在可能会使诊断和管理复杂化.
- 分子遗传检测对于准确诊断遗传综合征至关重要.
研究的目的:
- 介绍一个怀疑同时存在遗传性疾病的患者的临床病例.
- 用分子遗传分析来确认诊断.
- 为了研究卡布基综合症和CFTR变异的遗传基础.
主要方法:
- 临床评估,包括体检和症状评估.
- 高通量测序用于识别遗传变异.
- 分离分析以确定已识别变异的遗传模式.
- 对CFTR的功能评估,以评估其活动.
主要成果:
- 患者的临床特征与卡布基综合征一致.
- 在KMT2D基因 (NM_003482.4:c.15142C>T p.Arg5048Cys) 中发现了一种致病性异构体变异,可能是 de novo.
- 在CFTR基因中发现了两种异合体变异 (c.1521_1523delCTT p.Phe508del和c.3454G>C p.Asp1152His),从父母继承.
- 功能评估显示CFTR功能保留,不包括CF或CFTR相关疾病.
结论:
- 根据临床和分子发现,该患者被确诊为卡布基综合征1型.
- 鉴定到的KMT2D变种证实了卡布基综合征的诊断.
- 由于保留了CFTR功能,CFTR变异在这个患者的疾病表型中没有贡献.
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