TY - JOUR
T1 - Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT
T2 - A Case Report
AU - Van Der Ven, Amelie T.
AU - Shril, Shirlee
AU - Ityel, Hadas
AU - Vivante, Asaf
AU - Chen, Jing
AU - Hwang, Daw Yang
AU - Laricchia, Kristen M.
AU - Lek, Monkol
AU - Tasic, Velibor
AU - Hildebrandt, Friedhelm
N1 - Publisher Copyright:
© 2017 S. Karger AG, Basel.
PY - 2017/8/1
Y1 - 2017/8/1
N2 - 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.
AB - 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.
KW - FAT4
KW - Syndromic CAKUT
KW - Van Maldergem syndrome
KW - Whole-exome sequencing
UR - http://www.scopus.com/inward/record.url?scp=85021897288&partnerID=8YFLogxK
U2 - 10.1159/000477750
DO - 10.1159/000477750
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AN - SCOPUS:85021897288
SN - 1661-8769
VL - 8
SP - 272
EP - 277
JO - Molecular Syndromology
JF - Molecular Syndromology
IS - 5
ER -