Diagnosis and fertility consultation in a patient with autosomal recessive cutis laxa due toPYCR1 gene mutation
张艳 1林堃 1曾丽娜 1林荔 1董娴 1陈煌辉 2林力华3
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作者信息
1. 莆田学院附属医院产前诊断中心，莆田 351100
2. 中国融通医疗健康集团莆田九十五医院普通外科，莆田 351100
3. 莆田学院附属医院妇产科，莆田 351100
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摘要
目的 对1例常染色体隐性遗传表皮松弛症患者的PYCR1基因进行变异分析，明确其遗传学病因。 方法 收集患者的外周静脉血进行染色体核型分析、单核苷酸多态性微阵列芯片(single nucleotide polymorphism array，SNP-array)分析及全外显子测序(whole exome sequencing，WES)，并通过Sanger测序进行位点验证。 结果 患者的外周静脉血中检测到PYCR1基因的4号外显子存在1个来源未知的纯合变异c．345delC(p.R116Gfs*6)，为移码突变，目前，国内尚未见报道。 结论 PYCR1基因的4号外显子c.345delC(p.R116Gfs*6)纯合变异为患者表皮松弛的病因，为其后续生育提供了遗传学依据。 Objective To analyze the variations in the PYCR1 gene of a patient with autosomal recessive inherited cutis laxa. Methods Chromosome karyotyping analysis, SNP-array and WES were performed on blood samples. Candidate variants were verified by Sanger sequencing. Results A homozygous mutation c. 345delC(p.R116Gfs*6) was identified in exon 4 of the PYCR1 gene through WES, which is a frame shift mutation. At present, no studies have reported it in China. Conclusion The homozygous mutation c. 345delC(p.R116Gfs*6) variant in exon4 of the PYCR1 is pathogenic cause of cutis laxa. It provide genetic basis for future reproduction.
Abstract
Objective To analyze the variations in the PYCR1 gene of a patient with autosomal recessive inherited cutis laxa. Methods Chromosome karyotyping analysis, SNP-array and WES were performed on blood samples. Candidate variants were verified by Sanger sequencing. Results A homozygous mutation c. 345delC(p.R116Gfs*6) was identified in exon 4 of the PYCR1 gene through WES, which is a frame shift mutation. At present, no studies have reported it in China. Conclusion The homozygous mutation c. 345delC(p.R116Gfs*6) variant in exon4 of the PYCR1 is pathogenic cause of cutis laxa. It provide genetic basis for future reproduction.
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