Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1

Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1

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] (...

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Veröffentlicht in:Case reports in genetics 2024, Vol.2024 (1), p.1595717
Hauptverfasser: 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
Format: Artikel
Sprache:eng
Schlagworte:
Genes
Genetic aspects
Movement disorders
Multiple abnormalities
Pediatrics
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Zusammenfassung: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.
ISSN:2090-6544
2090-6552
DOI:10.1155/2024/1595717