Genes, Vol. 12, Pages 1449: Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO)

Genes, Vol. 12, Pages 1449: Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO) Genes doi: 10.3390/genes12091449 Authors: Luca M. Schierbaum Sophia Schneider Stefan Herms Sugirthan Sivalingam Julia Fabian Heiko Reutter Stefanie Weber Waltraut M. Merz Marcin Tkaczyk Monika Miklaszewska Przemyslaw Sikora Agnieszka Szmigielska Grazyna Krzemien Katarzyna Zachwieja Maria Szczepanska Katarzyna Taranta-Janusz Pawel Kroll Marcin Polok Marcin Zaniew Alina C. Hilger 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 d...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research