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Abstract：
Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive condition, which is caused by biallelic mutations in mismatch repair genes: MSH2, MLH1, MSH6, and PMS2.
We reported a unique case of an 11-year-old Chinese girl with colorectal polyposis and café-au-lait macules who had no obvious family history of Lynch syndrome-associated tumors, followed by brain gliomas and colorectal carcinoma five years later. The diagnosis of CMMRD was based on gene sequencing analysis showing a homozygous deletion NM_00535.5:c.1577delA (p.Asp526fs) in exon 11 of the PMS2 gene. Although the patient underwent surgery and radiation therapy, and close surveillances including radiological, endoscopic and hematological screening have been recommended, she died of the exacerbation of neurological symptoms at the age of 18.
We identified a novel homozygous deletion in the PMS2 gene in a CMMRD patient with complex clinical features.
We reported a unique case of an 11-year-old Chinese girl with colorectal polyposis and café-au-lait macules who had no obvious family history of Lynch syndrome-associated tumors, followed by brain gliomas and colorectal carcinoma five years later. The diagnosis of CMMRD was based on gene sequencing analysis showing a homozygous deletion NM_00535.5:c.1577delA (p.Asp526fs) in exon 11 of the PMS2 gene. Although the patient underwent surgery and radiation therapy, and close surveillances including radiological, endoscopic and hematological screening have been recommended, she died of the exacerbation of neurological symptoms at the age of 18.
We identified a novel homozygous deletion in the PMS2 gene in a CMMRD patient with complex clinical features.
摘要：
体质错配修复缺陷（CMMRD）是一种罕见的常染色体隐性遗传疾病，这是由错配修复基因MSH2，MLH1，MSH6和PMS2的双等位基因突变引起的。
我们报道了一个独特的病例，一个11岁的中国女孩患有结直肠息肉病和咖啡-au-lait黄斑，没有明显的Lynch综合征相关肿瘤家族史，五年后依次是脑胶质瘤和结直肠癌。CMMRD的诊断基于基因测序分析，显示纯合缺失NM_00535.5：c.1577delA（p。Asp526fs)在PMS2基因的外显子11。虽然病人接受了手术和放射治疗,和密切监测，包括放射学，建议进行内镜和血液学筛查，她在18岁时死于神经症状恶化。
我们在具有复杂临床特征的CMMRD患者中鉴定了PMS2基因中的新的纯合缺失。
我们报道了一个独特的病例，一个11岁的中国女孩患有结直肠息肉病和咖啡-au-lait黄斑，没有明显的Lynch综合征相关肿瘤家族史，五年后依次是脑胶质瘤和结直肠癌。CMMRD的诊断基于基因测序分析，显示纯合缺失NM_00535.5：c.1577delA（p。Asp526fs)在PMS2基因的外显子11。虽然病人接受了手术和放射治疗,和密切监测，包括放射学，建议进行内镜和血液学筛查，她在18岁时死于神经症状恶化。
我们在具有复杂临床特征的CMMRD患者中鉴定了PMS2基因中的新的纯合缺失。
