COL2A1 基因变异相关腭裂1 例报告并文献复习

目的探讨腭裂患儿的临床特征及致病基因。方法回顾分析1例COL2A1基因变异腭裂患儿的临床资料,并复习c.2292 delA变异相关腭裂相关文献。结果患儿男,生后即发现上腭畸形,临床表现有双眼略凸出、哭声低哑、喉中痰鸣、呼吸阵发性急促有吐沫、下颌小、舌短、软腭及悬雍垂裂、硬腭部分裂开。全外显子组基因靶向捕获-高通量测序示患儿COL2A1基因存在c.2292 delA移码缺失变异。文献复习发现,COL2A1基因移码变异已在人类基因变异数据库(HGMD)和ClinVar中报道,但本例患儿的变异位点未有报道,在正常人群数据库gnomAD、千人数据库和ExAC数据库中也均未被收录,为罕见变异。结论COL2A1基因变异c.2292 delA相关腭裂较罕见,基因检测可协助诊断。

Cleft palate associated with COL2A1 gene mutation:a case report and literature review

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 COL2A1 gene variation(c.2292 delA)is rare,and genetic testing can assist in diagnosis.