{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T04:29:58Z","timestamp":1793248198953,"version":"4.5.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T00:00:00Z","timestamp":1717718400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T00:00:00Z","timestamp":1717718400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Res"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Congenital unilateral renal agenesis (URA) is a kind of rare birth defect during fetal development with varies clinical phenotypes. The pathogenesis and the relationship between gene and phenotype are still unclear.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Ten URA fetuses were followed up after birth using postnatal renal ultrasound examination to confirm the diagnosis with nine children were URA and one was Renal Ectopy (RE). Trio- WES, CNV- seq were performed with the 10 children and their close relatives.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>There were 3 heterozygous variants of <jats:italic>CHD7<\/jats:italic>, <jats:italic>PROKR2<\/jats:italic> and <jats:italic>NRIP1<\/jats:italic> genes were identified in 3 children, respectively. <jats:italic>CHD7<\/jats:italic> (c.2663T&gt;C, p.M888T) is classified as likely pathogenic (LP), <jats:italic>PROKR2<\/jats:italic> (c.685G&gt;C, p.G229R) and <jats:italic>NRIP1<\/jats:italic> (c.2705T&gt;G, p.F902C) are classified as variants of uncertain significance (VUS). <jats:italic>CHD7<\/jats:italic> (c.2663T&gt;C, p.M888T) and <jats:italic>PROKR2<\/jats:italic> (c.685G&gt;C, p.G229R) as URA-related genes may be associated with idiopathic hypogonadotropic hypogonadism (IHH) or CHARGE syndrome (CS), and 3D-protein structure prediction revealed that the two variants may affect the stability in the CHD7 protein or PROKR2 protein, separately. The RE-related gene <jats:italic>NRIP1<\/jats:italic> (c.2705T&gt;G, p.F902C) may be causative of congenital anomalies of the kidneys and urinary tract (CAKUT).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>Identification of these variants can in exploring the etiology of URA or RE and improve the level of genetic counseling.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Impacts<\/jats:title>\n            <jats:p>\n              <jats:list list-type=\"bullet\">\n                <jats:list-item>\n                  <jats:p>We performed trio-whole-exome sequencing (trio- WES) and copy number variation sequencing (CNV- seq) in 10 children, including 9 children with Unilateral Renal Agenesis and 1 with Renal Ectopy after birth.<\/jats:p>\n                <\/jats:list-item>\n                <jats:list-item>\n                  <jats:p>The possible pathogenic genes of URA can be screened using prenatal and postnatal diagnosis of URA fetuses and gene detection after birth.<\/jats:p>\n                <\/jats:list-item>\n                <jats:list-item>\n                  <jats:p>Future studies evaluating this association may lead to a better understanding of URA and elucidate exploring the etiology of URA or RE and improve the level of genetic counseling.<\/jats:p>\n                <\/jats:list-item>\n              <\/jats:list>\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1038\/s41390-024-03178-4","type":"journal-article","created":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T13:02:01Z","timestamp":1717765321000},"page":"273-279","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Genetic analysis of congenital unilateral renal agenesis in children based on next-generation sequencing"],"prefix":"10.1038","volume":"97","author":[{"given":"Huiru","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingzhi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yao","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Qian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengrong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zunlun","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zulong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,6,7]]},"reference":[{"key":"3178_CR1","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1016\/j.siny.2017.01.001","volume":"22","author":"S Rosenblum","year":"2017","unstructured":"Rosenblum, S., Pal, A. & Reidy, K. 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