1. Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report
- Author
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Hadas Ityel, Friedhelm Hildebrandt, Kristen M. Laricchia, Daw-Yang Hwang, Amelie T. van der Ven, Jing Chen, Asaf Vivante, Velibor Tasic, Shirlee Shril, and Monkol Lek
- Subjects
0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,Van Maldergem syndrome ,business.industry ,Urinary system ,Scoliosis ,Compound heterozygosity ,medicine.disease ,Midface hypoplasia ,03 medical and health sciences ,Camptodactyly ,030104 developmental biology ,Genetics ,Cancer research ,Medicine ,medicine.symptom ,business ,Genetics (clinical) ,Exome sequencing ,Ureterovesical junction obstruction - 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.
- Published
- 2017