Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0700208 (
scoliosis
)
8,574
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Whole-Exome Sequencing Reveals
FAT4
Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report. 2887 12
