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Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report.

ABSTRACT: 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.

SUBMITTER: van der Ven AT 

PROVIDER: S-EPMC5582506 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature

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Whole-Exome Sequencing Reveals <b><i>FAT4</i></b> Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report.

van der Ven Amelie T AT   Shril Shirlee S   Ityel Hadas H   Vivante Asaf A   Chen Jing J   Hwang Daw-Yang DY   Laricchia Kristen M KM   Lek Monkol M   Tasic Velibor V   Hildebrandt Friedhelm F  

Molecular syndromology 20170701 5

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 <i>FAT4</i> gene. Recessive variants in <i>FAT4</i> are a known cause of van Maldergem syndrome (VMS) in which congenital anomalies of the kidney and urinary tract are a less ch  ...[more]

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