Cytogenomic aberrations in isolated multicystic dysplastic kidney in children.
Cytogenomic aberrations in isolated multicystic dysplastic kidney in children.
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DOI：
10.1038/s41390-021-01476-9
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发表时间：
2022-03
影响因子：
3.6
通讯作者：
Yosypiv IV
中科院分区：
文献类型：
--
作者：
Chen TJ;Song R;Janssen A;Yosypiv IV
多囊性发育不良肾（MCDK）是一种常见的先天性肾脏畸形。MCDK的原因尚不清楚。我们调查了儿童MCDK是否与细胞基因组畸变有关。我们对10名无血缘关系的MCDK儿童进行了阵列比较基因组杂交（aCGH）。通过实时PCR确定患者及其生物学父母的遗传模式。在3例患者中检测到致病性畸变：7p14.3缺失，大小为2.07 Mb，包含12个基因，包括BBS 9和BMPER; 16p13.11p12.3重复，大小为3.28 Mb，包含20多个基因;女性患者为X单体。7p14.3的缺失来自患者父亲，而16p13.11p12.3的重复来自患者母亲。多达30%的MCDK患者具有细胞基因组畸变。据报道，BBS 9和BMPER变体导致囊性肾发育不良，表明MCDK儿童7p14.3缺失可能具有致病功能。先前未报告16p13.11p12.3处的重复与MCDK相关。这两种变异都是从父母那里遗传的，表明MCDK的遗传贡献。因此，aCGH是解开MCDK致病机制的信息工具。
Multicystic dysplastic kidney (MCDK) is a common form of congenital kidney anomaly. The cause of MCDK is unknown. We investigated whether MCDK in children is linked to cytogenomic aberrations. We conducted Array Comparative Genomic Hybridization (aCGH) in 10 unrelated children with MCDK. The pattern of inheritance was determined by real-time PCR in patients and their biological parents. Pathogenic aberrations were detected in three patients: a deletion at 7p14.3 with a size of 2.07 Mb housing 12 genes, including BBS9 and BMPER; a duplication at 16p13.11p12.3 with a size of 3.28 Mb that included more than 20 genes; and monosomy X for a female patient. The deletion at 7p14.3 was inherited from patient’s father, while the duplication at 16p13.11p12.3 was derived from patient’s mother. Up to 30% of patients with MCDK possess cytogenomic aberrations. BBS9 and BMPER variants have been reported to result in cystic kidney dysplasia, suggesting possible pathogenic function for the deletion at 7p14.3 in children with MCDK. The duplication at 16p13.11p12.3 was not reported previously to associate with MCDK. Both variations were inherited from parents, indicating hereditary contributions in MCDK. Thus, aCGH is an informative tool to unravel pathogenic mechanisms of MCDK.
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DOI：
10.2215/cjn.03320410
发表时间：
2011-01-01
影响因子：
9.8
作者：
Imhoff, Olivier;Marion, Vincent;Moulin, Bruno
通讯作者：
Moulin, Bruno
影响因子：
8.8
作者：
South, Sarah T.;Lee, Charles;Kearney, Hutton M.
通讯作者：
Kearney, Hutton M.
影响因子：
8.8
作者：
Riggs, Erin Rooney;Andersen, Erica F.;Martin, Christa Lese
通讯作者：
Martin, Christa Lese
影响因子：
30.8
作者：
Verbitsky, Miguel;Westland, Rik;Sanna-Cherchi, Simone
通讯作者：
Sanna-Cherchi, Simone
影响因子：
1.8
作者：
Kitagawa, Hiroaki;Pringle, Kevin C.;Nakada, Koonosuke
通讯作者：
Nakada, Koonosuke