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  • Title: [Genetic analysis and clinical phenotype of a family with lymphedema-distichiasis syndrome].
    Author: Hu G, Liu B, Chen M, Qian Y, Dong M.
    Journal: Zhejiang Da Xue Xue Bao Yi Xue Ban; 2020 Oct 25; 49(5):581-585. PubMed ID: 33210483.
    Abstract:
    OBJECTIVE: To identify the genetic causes of a family with lymphedema-distichiasis syndrome (LDS). METHODS: The whole exome sequencing was performed in a aborted fetus as the proband, and a candidate gene was identified. Peripheral blood of 8 family members were collected. Genotypic-phenotypic analysis were carried out through PCR amplification and Sanger sequencing. RESULTS: The proband, and the mother, grandmother, uncle, granduncle of the proband all had distichiasis or varix of lower limb carried a FOXC2:c.595dupC frame shift mutation, and other subjects without any significant phenotypes did not present the mutation. CONCLUSIONS: The FOXC2:c.595dupC frame shift mutation is the genetic cause of this family, which can lead to autosomal dominantly LDS, presenting nuchal translucency thickening and hydrops fetal during pregnancy, and the prognosis is usually good. 目的: 探讨一个淋巴水肿-双行睫综合征家系的遗传学原因。 方法: 提取先证者（胎儿流产物）DNA行全外显子组测序，初步确定候选致病基因。收集先证者父母及其他家系共8位成员的外周血，通过PCR扩增及Sanger测序等行基因突变检测，并分析其与表型的相关性。 结果: 先证者、母亲、外婆、舅舅、外舅公临床表现为双行睫或下肢静脉曲张，均存在 FOXC2：c.595dupC杂合移码突变，其他无临床表型的受检者不存在该突变。 结论: FOXC2基因c.595dupC杂合突变是该家系的遗传学病因，可导致常染色体显性遗传淋巴水肿-双行睫综合征，孕期表现为胎儿颈部透明带增厚、胎儿水肿，存在自愈可能。
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