Back to Search
Start Over
Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO)
- Source :
- Genes, Volume 12, Issue 9, Genes, Vol 12, Iss 1449, p 1449 (2021)
- Publication Year :
- 2021
- Publisher :
- MDPI AG, 2021.
-
Abstract
- Lower urinary tract obstruction (LUTO) is, in most cases, caused by anatomical blockage of the bladder outlet. The most common form are posterior urethral valves (PUVs), a male-limited phenotype. Here, we surveyed the genome of 155 LUTO patients to identify disease-causing CNVs. Raw intensity data were collected for CNVs detected in LUTO patients and 4.392 healthy controls using CNVPartition, QuantiSNP and PennCNV. Overlapping CNVs between patients and controls were discarded. Additional filtering implicated CNV frequency in the database of genomic variants, gene content and final visual inspection detecting 37 ultra-rare CNVs. After, prioritization qPCR analysis confirmed 3 microduplications, all detected in PUV patients. One microduplication (5q23.2) occurred de novo in the two remaining microduplications found on chromosome 1p36.21 and 10q23.31. Parental DNA was not available for segregation analysis. All three duplications comprised 11 coding genes: four human specific lncRNA and one microRNA. Three coding genes (FBLIM1, SLC16A12, SNCAIP) and the microRNA MIR107 have previously been shown to be expressed in the developing urinary tract of mouse embryos. We propose that duplications, rare or de novo, contribute to PUV formation, a male-limited phenotype.
- Subjects :
- Male
copy number variations (CNVs)
Prioritization
male limited phenotype
de novo
Urethral Obstruction
DNA Copy Number Variations
Urinary system
QH426-470
Biology
Genome
Article
Gene Duplication
maternal transmission
microRNA
Genetics
medicine
Humans
ddc:610
Gene
Genetics (clinical)
Chromosome
posterior urethral valves
lower urinary tract obstruction (LUTO)
medicine.disease
Phenotype
Urinary Bladder Neck Obstruction
Fetal Diseases
Urinary tract obstruction
Gene Deletion
Genome-Wide Association Study
Subjects
Details
- ISSN :
- 20734425
- Volume :
- 12
- Database :
- OpenAIRE
- Journal :
- Genes
- Accession number :
- edsair.doi.dedup.....6bc226c95f399901ff6cf7201537fb28