Cofn-Lowry综合征1例报告及文献回顾

Coffin-Lowry syndrome: a case report and literature review

目的探讨Coffin-Lowry综合征的临床特点。方法回顾分析1例Coffin-Lowry综合征患儿的临床资料及基因学检测结果,并复习相关文献。结果患儿,男,4岁3个月,因智力运动迟缓就诊;患儿有特殊面容,头小、前额突出、眼距宽、眼裂外下斜、鼻梁低平、口大、唇厚、牙釉质发育不良、耳大,手指呈椎体样。基因组测序及生物信息学分析显示患儿RPS6KA3基因5号外显子存在一处半合子突变c.340C>T(胞嘧啶>胸腺嘧啶),致氨基酸变化p.Arg114Trp(精氨酸>色氨酸),确诊为Coffin-Lowry综合征。结论 Coffin-Lowry综合征患儿有智力运动迟缓,特殊面容;基因检测有助于早期诊断。

Objective To explore the clinical characteristics of Coffin-Lowry syndrome.Method The clinical data and genetic testing of Coffin-Lowry syndrome in a child were retrospectively analyzed,and pertinent literature was reviewed.Results A boy aged 4 years and 3 months visited for mental retardation.The child have special face such as microcephaly,prominent forehead,hypertelorism,downward sloping palpebral fissures,a flat nasal bridge,a wide mouth with full lips and enamel dysplasia,large ears,and puffy tapered fingers.Genomic sequencing and bioinformatics analysis showed that exon 5 of RPS6KA3 gene has a hemizygous mutant c.340C>T(cytosine>thymine)which caused the changes in amino acid p.Arg114Trp(arginine>tryptophan),and the diagnosis of Coffin-Lowry syndrome was confirmed.Conclusion Children with Coffin-Lowry syndrome have mental retardation and special facial features,and gene detection helps early diagnosis.