Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO)

Schierbaum LM, Schneider S, Herms S, Sivalingam S, Fabian J, Reutter HM, Weber S, Merz WM, Tkaczyk M, Miklaszewska M, Sikora P, Szmigielska A, Krzemien G, Zachwieja K, Szczepanska M, Taranta-Janusz K, Kroll P, Polok M, Zaniew M, Hilger AC (2021)

Publication Type: Journal article

Publication year: 2021

Journal

Genes Molecular Diversity Preservation International (MDPI)

Book Volume: 12

Journal Issue: 9

DOI: 10.3390/genes12091449

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.

Authors with CRIS profile

Heiko Martin Reutter Professur für Neonatologie

Involved external institutions

Poznan University of Medical Sciences / Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu PL Poland (PL) Jagiellonian University / Uniwersytet Jagielloński (UJ) PL Poland (PL) University of Zielona Góra / Uniwersytet Zielonogórski PL Poland (PL) Universitätsklinikum Bonn DE Germany (DE) Rheinische Friedrich-Wilhelms-Universität Bonn DE Germany (DE) Medical University of Lublin / Uniwersytet Medyczny w Lublinie PL Poland (PL) Medical University of Silesia in Katowice / Śląski Uniwersytet Medyczny w Katowicach (SUM) PL Poland (PL) University of Białystok PL Poland (PL) Wrocław Medical University / Uniwersytet Medyczny we Wrocławiu PL Poland (PL) Universitätsklinikum Gießen und Marburg (UKGM) DE Germany (DE) Instytut Centrum Zdrowia Matki Polki w Łodzi (ICZMP) / Polish Mother’s Memorial Hospital Research Institute PL Poland (PL)

How to cite

APA:

Schierbaum, L.M., Schneider, S., Herms, S., Sivalingam, S., Fabian, J., Reutter, H.M.,... Hilger, A.C. (2021). Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO). Genes, 12(9). https://dx.doi.org/10.3390/genes12091449

MLA:

Schierbaum, Luca M., et al. "Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO)." Genes 12.9 (2021).

BibTeX: Download