{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T11:45:45Z","timestamp":1753875945673,"version":"3.41.2"},"reference-count":5,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2024,6,18]],"date-time":"2024-06-18T00:00:00Z","timestamp":1718668800000},"content-version":"vor","delay-in-days":17,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program","doi-asserted-by":"publisher","award":["2022YFC2705100","2022YFC2705105"],"award-info":[{"award-number":["2022YFC2705100","2022YFC2705105"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82270746"],"award-info":[{"award-number":["82270746"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,6,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>The ANKFY1 gene encodes a protein that belongs to double zinc finger proteins involved in endocytosis. Only one family with steroid-resistant nephrotic syndrome has been reported carrying a homozygous variant in ANKFY1 so far. Here we describe the second case where a 13-year-old boy presented with infantile-onset proteinuria and movement disorder. Whole-exome sequencing showed compound heterozygous variants (NM_001330063.2: c.2753C&amp;gt;G; p.Ser918Ter, and c.3287\u201311_3287\u201310del) in ANKFY1. In vitro functional study revealed the two variants led to reduced protein expression level of ANKFY1. This is the first case of co-existence of renal and nervous system phenotypes in a child with variants in ANKFY1, suggesting that bi-allelic variants in ANKFY1 might be associated with a new neuro-renal syndrome.<\/jats:p>","DOI":"10.1093\/ckj\/sfae124","type":"journal-article","created":{"date-parts":[[2024,6,18]],"date-time":"2024-06-18T01:32:59Z","timestamp":1718674379000},"source":"Crossref","is-referenced-by-count":0,"title":["Compound heterozygous variants of ANKFY1 in a child with infantile-onset proteinuria and movement disorder"],"prefix":"10.1093","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1362-9380","authenticated-orcid":false,"given":"Luyan","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Nephrology, Children's Hospital of Nanjing Medical University , Nanjing, Jiangsu , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xueqin","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children's Hospital of Nanjing Medical University , Nanjing, Jiangsu , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunli","family":"Wang","sequence":"additional","affiliation":[{"name":"Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University , Nanjing, Jiangsu , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Zhou","sequence":"additional","affiliation":[{"name":"Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University , Nanjing, Jiangsu , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bixia","family":"Zheng","sequence":"additional","affiliation":[{"name":"Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University , Nanjing, Jiangsu , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aihua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children's Hospital of Nanjing Medical University , Nanjing, Jiangsu , China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,6,17]]},"reference":[{"key":"2024062407555889200_bib1","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1006\/bbrc.1999.0430","article-title":"Molecular cloning of a novel 130-kDa cytoplasmic protein, Ankhzn, containing Ankyrin repeats hooked to a zinc finger motif","volume":"257","author":"Ito","year":"1999","journal-title":"Biochem Biophys Res Commun"},{"key":"2024062407555889200_bib2","doi-asserted-by":"crossref","first-page":"2123","DOI":"10.1681\/ASN.2017121312","article-title":"GAPVD1 and ANKFY1 mutations implicate RAB5 regulation in nephrotic syndrome","volume":"29","author":"Hermle","year":"2018","journal-title":"J Am Soc Nephrol"},{"key":"2024062407555889200_bib3","doi-asserted-by":"crossref","first-page":"121","DOI":"10.3389\/fnmol.2017.00121","article-title":"Purkinje cell degeneration and motor coordination deficits in a new mouse model of autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"10","author":"Ding","year":"2017","journal-title":"Front Mol Neurosci"},{"key":"2024062407555889200_bib4","doi-asserted-by":"crossref","first-page":"648801","DOI":"10.3389\/fncel.2021.648801","article-title":"Ankfy1 Is involved in the maintenance of cerebellar Purkinje cells","volume":"15","author":"Chang","year":"2021","journal-title":"Front Cell Neurosci"},{"key":"2024062407555889200_bib5","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1007\/s00439-020-02219-2","article-title":"Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon","volume":"140","author":"Gianesello","year":"2021","journal-title":"Hum Genet"}],"container-title":["Clinical Kidney 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