PDF(Pubmed)
Abstract：
The study describes the clinical manifestations and variant screening of two Chinese siblings with primary ciliary dyskinesia (PCD). They carry the same DNAAF2 genotype, which is an extremely rare PCD genotype in the Chinese population. In addition, the study illustrated an overview of published variants on DNAAF2 to date.
A two-child family was recruited for the study. Clinical manifestations, laboratory tests, bronchoscopic and otoscopic images, and radiographic data were collected. Whole blood was collected from siblings and their parents for whole-exome sequencing (WES) and Sanger sequencing to screen variants.
The two siblings exhibited typical clinical manifestations of PCD. Two compound heterozygous variants in DNAAF2 were detected in both by WES. Nonsense variant c.156 C>A and frameshift variant c.177_178insA, which was a novel variant.
The study identified a novel variant of DNAAF2 in Chinese children with a typical phenotype of PCD, which may enrich our knowledge of the clinical, diagnostic and genetic information of DNAAF2-induced PCD in children.
A two-child family was recruited for the study. Clinical manifestations, laboratory tests, bronchoscopic and otoscopic images, and radiographic data were collected. Whole blood was collected from siblings and their parents for whole-exome sequencing (WES) and Sanger sequencing to screen variants.
The two siblings exhibited typical clinical manifestations of PCD. Two compound heterozygous variants in DNAAF2 were detected in both by WES. Nonsense variant c.156 C>A and frameshift variant c.177_178insA, which was a novel variant.
The study identified a novel variant of DNAAF2 in Chinese children with a typical phenotype of PCD, which may enrich our knowledge of the clinical, diagnostic and genetic information of DNAAF2-induced PCD in children.
摘要：
背景：该研究描述了两名患有原发性纤毛运动障碍（PCD）的中国兄弟姐妹的临床表现和变异筛查。它们携带相同的DNAAF2基因型，这是中国人群中极为罕见的PCD基因型。此外,该研究概述了迄今为止已发表的DNAAF2变体.
方法：本研究招募了一个有两个孩子的家庭。临床表现,实验室测试,支气管镜和耳镜图像，并收集射线照相数据。从兄弟姐妹及其父母收集全血用于全外显子组测序(WES)和Sanger测序以筛选变体。
结果：两个兄弟姐妹均表现为PCD的典型临床表现。通过WES在DNAAF2中检测到两种复合杂合变体。无义变体c.156C>A和移码变体c.177_178insA，这是一个新颖的变体。
结论：该研究在具有典型PCD表型的中国儿童中发现了DNAAF2的新变体，这可以丰富我们的临床知识，DNAAF2诱导的儿童PCD的诊断和遗传信息。
方法：本研究招募了一个有两个孩子的家庭。临床表现,实验室测试,支气管镜和耳镜图像，并收集射线照相数据。从兄弟姐妹及其父母收集全血用于全外显子组测序(WES)和Sanger测序以筛选变体。
结果：两个兄弟姐妹均表现为PCD的典型临床表现。通过WES在DNAAF2中检测到两种复合杂合变体。无义变体c.156C>A和移码变体c.177_178insA，这是一个新颖的变体。
结论：该研究在具有典型PCD表型的中国儿童中发现了DNAAF2的新变体，这可以丰富我们的临床知识，DNAAF2诱导的儿童PCD的诊断和遗传信息。
