两例由口面指综合征基因功能丧失变异导致的原发性纤毛运动障碍儿科病例
Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, .
作者信息
Xu Yifei, Tsurinaga Yuki, Matsumoto Tsubasa, Muta Ryuji, Yano Taichi, Sakaida Hiroshi, Masuda Sawako, Ueda Koki, Feng Guofei, Gotoh Shimpei, Ogawa Satoru, Ikejiri Makoto, Nakatani Kaname, Nagao Mizuho, Tanabe Masaki, Takeuchi Kazuhiko
机构信息
Department of Otorhinolaryngology-Head and Neck Surgery Mie University Graduate School of Medicine, Tsu, Japan.
Department of Pediatrics Osaka Habikino Medical Center, Osaka, Japan.
出版信息
Case Rep Genet. 2024 Aug 9;2024:1595717. doi: 10.1155/2024/1595717. eCollection 2024.
Primary ciliary dyskinesia (PCD) is a hereditary disease caused by genes related to motile cilia. We report two male pediatric cases of PCD caused by hemizygous pathogenic variants in the OFD1 centriole and centriolar satellite protein () gene. The variants were NM_003611.3: c.[2789_2793delTAAAA] (p.[Ile930LysfsTer8]) in Case 1 and c.[2632_2635delGAAG] (p.[Glu878LysfsTer9]) in Case 2. Both cases had characteristic recurrent respiratory infections. Neither case had symptoms of oral-facial-digital syndrome type I. We identified a variant (c.2632_2635delGAAG) that has not been previously reported in any case of -PCD.
原发性纤毛运动障碍（PCD）是一种由与运动性纤毛相关的基因引起的遗传性疾病。我们报告了两例男性儿科PCD病例，其病因是OFD1中心粒和中心粒卫星蛋白（）基因的半合子致病变异。病例1的变异为NM_003611.3:c.[2789_2793delTAAAA]（p.[Ile930LysfsTer8]），病例2的变异为c.[2632_2635delGAAG]（p.[Glu878LysfsTer9]）。两例病例均有典型的反复呼吸道感染。两例病例均无I型口面指综合征的症状。我们鉴定出一种变异（c.2632_2635delGAAG），此前在任何PCD病例中均未报道过。
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