Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report
Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report
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全外显子组测序揭示了临床无法识别的 CAKUT 综合征患者的 FAT4 突变：病例报告
DOI：
10.1159/000477750
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发表时间：
2017
影响因子：
1.1
通讯作者：
Friedhelm
中科院分区：
文献类型：
--
作者：
van der Ven;Amelie T;Shirlee;Vivante;Daw-Yang;Laricchia;Kristen M;Monkol;Velibor;Hildebrandt;Friedhelm
我们报告一位来自马其顿的患者，单侧肾发育不全，输尿管膀胱交界处梗阻，并伴有进一步的畸形，包括面中部发育不全，脊柱侧弯，以及一个脚趾的驼趾畸形。全外显子测序分析显示FAT4基因存在复合杂合变异。FAT4的隐性变异是Van Maldergem综合征(VMS)的已知原因，在VMS中，肾脏和尿路的先天性异常是一个不太典型但常见的特征。我们的病人最初的表现在临床上是无法辨认的。然而，从分子表现来看，最有可能的诊断是VMS的轻微表现。到目前为止，只有极少数文献报道了VMS患者和FAT4基因突变。通过这一案例，我们希望对这种综合征的表型变异性提供进一步的洞察。
We present the case of a patient of Macedonian origin with unilateral renal agenesis and ureterovesical junction obstruction in combination with further abnormalities including midface hypoplasia, scoliosis as well as camptodactyly of one toe. Whole-exome sequencing analysis revealed compound heterozygous variants in the FAT4 gene. Recessive variants in FAT4 are a known cause of van Maldergem syndrome (VMS) in which congenital anomalies of the kidney and urinary tract are a less characteristic but common feature. The initial presentation of our patient was not clinically recognizable. However, in view of the molecular findings, the most likely diagnosis is a mild manifestation of VMS. Only very few publications have reported patients with VMS and mutations in FAT4 to date. With this case, we hope to provide further insight into the phenotypic variability of this syndrome.
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