关键词: 腭裂； COL 2 A 1基因； 基因变异； 新生儿

Abstract: Objective To explore the clinical features and pathogenic genes of cleft palate in children. Methods The clinical data of cleft palate associated with COL2A1 gene variation in a child was retrospectively analyzed, and the related literature of cleft palate with c.2292 delA variation was reviewed. Results The male patient was found to have an upper palate deformity immediately after birth. The main clinical manifestations were slightly protruding eyes, hoarse cry, sputum in the throat, paroxysmal rapid breathing with spitting, small jaw, short tongue, soft palate and uvula cleft, and partly cracked hard palate. Whole exome gene targeted capture high-throughput sequencing showed a c. 2292 delA frameshift deletion mutation in COL2A1 gene. Literature review found that COL2A1 frameshift mutation has been reported in human genetic variation database (HGMD) and ClinVar, but the mutation site of this case has not been reported, Also it has not been included in normal population database gnomAD, thousand person database and ExAC database and it is a rare mutation. Conclusion Cleft palate associated with COL 2 A 1 gene variation (c.2292 delA) is rare, and genetic testing can assist in diagnosis.

Key words: cleft palate; COL 2 A 1 gene; genetic mutation; neonate