Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO).
Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO).
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DOI：
10.3390/genes12091449
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发表时间：
2021-09-20
期刊：
影响因子：
3.5
通讯作者：
Hilger AC
中科院分区：
文献类型：
--
作者：
Schierbaum LM;Schneider S;Herms S;Sivalingam S;Fabian J;Reutter H;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
下尿路梗阻（LUTO）在大多数情况下是由膀胱出口的解剖学阻塞引起的。最常见的形式是后尿道瓣膜（PUV），这是一种男性限制型。在这里，我们调查了155名LUTO患者的基因组，以确定致病的CNV。使用CNVPartition、QuantiSNP和PennCNV收集LUTO患者和4.392名健康对照中检测到的CNV的原始强度数据。丢弃患者和对照之间的重叠CNV。额外的过滤涉及基因组变异、基因内容和最终目视检查数据库中的CNV频率，检测到37种超罕见CNV。之后，优先qPCR分析确认了3个微重复，均在PUV患者中检测到。在染色体1p36.21和10q23.31上发现的其余两个微重复中，一个微重复（5q23.2）从头发生。无法获得父母DNA进行分离分析。所有三个重复包含11个编码基因：4个人类特异性lncRNA和1个microRNA。三个编码基因（FBLIM1，SLC16A12，SNCAIP）和microRNA MIR107先前已被证明在小鼠胚胎的发育中的泌尿道中表达。我们建议，重复，罕见或从头，有助于PUV形成，男性有限的表型。
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.
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DOI：
10.1016/j.bpobgyn.2019.01.003
发表时间：
2019-07-01
影响因子：
5.5
作者：
Cheung, Ka Wang;Morris, Rachel Katie;Kilby, Mark David
通讯作者：
Kilby, Mark David
影响因子：
2.9
作者：
Coquillette, Madeline;Lee, Richard S.;Stein, Deborah R.
通讯作者：
Stein, Deborah R.
影响因子：
5.2
作者：
Verma M;Patel P;Verma M
通讯作者：
Verma M
影响因子：
9.8
作者：
Kolvenbach, Caroline M.;Dworschak, Gabriel C.;Hilger, Alina C.
通讯作者：
Hilger, Alina C.
影响因子：
14.9
作者：
Bult CJ;Blake JA;Smith CL;Kadin JA;Richardson JE;Mouse Genome Database Group
通讯作者：
Mouse Genome Database Group