1例CAV1基因缺陷致家族性部分脂肪营养不良症的病例报道

A case report of familial partial lipodystrophy caused by CAV1 gene defect

目的报道1例CAV1基因c.396del(p.Cys133Alafs*6)发生移码变异导致家族性部分脂肪营养不良症。方法对1例严重营养不良症患儿及家系进行全外显子组测序,并结合文献对其基因型和表型进行分析。结果患儿,女,2岁,体重增长缓慢,全身皮下脂肪菲薄,三角形面容,小颌畸形。全外显子组测序提示CAV1基因c.396del(p.Cys133Alafs*6)发生移码变异,该位点突变为未有报道的新检测到的突变,本病诊断为CAV1基因相关家族性部分脂肪营养不良症7型。结论本研究有助于提高临床医生对家族性部分脂肪营养不良症的早期诊断和合并症的管理。

Objective To report a case of familial partial lipodystrophy caused by a frameshift mutation [c.396del(p.Cys133Alafs~*6)] in the CAV1 gene. Methods Whole-exome sequencing was performed on a severely malnourished child and their family members. Genotype and phenotype analysis were conducted based on the sequencing results and literature review. Results a 2-year-old female patient exhibited slow weight gain, thin subcutaneous fat throughout the body, triangular face, and micrognathia. Whole-exome sequencing revealed a frameshift mutation [c.396del(p.Cys133Alafs~*6)] in the CAV1gene, which has not been previously reported. The diagnosis of familial partial lipodystrophy type 7 associated with the CAV1gene was made. Conclusion This study contributes to the early diagnosis and management of complications in familial partial lipodystrophy for clinical practitioners.