Fengchang Qiao, Huasha Zeng, Cuiping Zhang, Yan Wang, Yuguo Wang, Ran Zhou, Lulu Meng, Ping Hu, Zhengfeng Xu
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引用次数: 0
摘要
背景：conradii - h nermann- apple综合征（CDPX2, OMIM 302960）是一种由EBP基因变异引起的x连锁显性遗传性疾病，主要影响皮肤、骨骼和眼睛。目的：描述一名7岁女孩的临床表现和基因突变，表现为严重的脊柱侧凸、肾积水和其他骨骼异常。方法：收集患者出生时的病史。外显子组测序鉴定候选基因，并通过Sanger测序确认检测到的变异。结果：外显子组测序显示患者有一个新的EBP突变（c.452A>G, p.Gln151Arg）。结论：该患者诊断为2型点状软骨发育不良（CDPX2）。这种新的错义突变扩大了CDPX2的突变谱，并强调了外显子组测序在诊断这种疾病中的临床应用。
A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi-Hünermann-Happle Syndrome Presenting with Hydronephrosis.
Background: Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an X-linked dominant inherited disorder caused by variants in the EBP gene, which primarily affects the skin, bones, and eyes.
Objective: To describe the clinical manifestations and genetic mutation in a 7-year-old girl presenting with severe scoliosis, hydronephrosis, and other skeletal abnormalities.
Methods: The patient's medical history was collected from birth. Exome sequencing was performed to identify candidate genes, and the detected variant was confirmed by Sanger sequencing.
Results: Exome sequencing revealed a de novo EBP mutation (c.452A>G, p.Gln151Arg) in the patient.
Conclusion: The patient was diagnosed with X-linked chondrodysplasia punctata type 2 (CDPX2). This novel missense mutation expands the mutation spectrum of CDPX2 and underscores the clinical utility of exome sequencing in diagnosing this condition.
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