{"doi":"10.1002/ajmg.a.62502","title":"A truncating <scp><i>NRIP1</i></scp> variant in an Arabic family with congenital anomalies of the kidneys and urinary tract","abstract":"Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute the most common cause of early-onset chronic kidney disease. In a previous study, we identified a heterozygous truncating variant in nuclear receptor-interacting protein 1 (NRIP1) as CAKUT causing via dysregulation of retinoic acid signaling. This large family remains the only family with NRIP1 variant reported so far. Here, we describe one additional CAKUT family with a truncating variant in NRIP1. By whole-exome sequencing, we identified one heterozygous frameshift variant (p.Asn676Lysfs*27) in an isolated CAKUT patient with bilateral hydroureteronephrosis and right grade V vesicoureteral reflux (VUR) and in the affected father with left renal hypoplasia. The variant is present twice in a heterozygous state in the gnomAD database of 125,000 control individuals. We report the second CAKUT family with a truncating variant in NRIP1, confirming that loss-of-function mutations in NRIP1 are a novel monogenic cause of human autosomal dominant CAKUT.","journal":"American Journal of Medical Genetics Part A","year":2021,"id":185736,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":7,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9493,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":232148,"name":"Chunyan Wang","orcid":"0009-0008-5301-2677","position":1,"is_corresponding":false},{"id":396867,"name":"Steve Seltzsam","orcid":"0000-0002-1269-6899","position":2,"is_corresponding":false},{"id":479441,"name":"Sophia Schneider","orcid":"0000-0003-4872-0093","position":3,"is_corresponding":false},{"id":479440,"name":"Luca Schierbaum","orcid":"0009-0002-4884-9647","position":4,"is_corresponding":false},{"id":742925,"name":"Wilfred Wu","orcid":null,"position":5,"is_corresponding":false},{"id":398444,"name":"Rufeng Dai","orcid":null,"position":6,"is_corresponding":false},{"id":396863,"name":"Dervla M. Connaughton","orcid":"0000-0003-3466-6305","position":7,"is_corresponding":false},{"id":319137,"name":"Makiko Nakayama","orcid":null,"position":8,"is_corresponding":false},{"id":398443,"name":"Nina Mann","orcid":null,"position":9,"is_corresponding":false},{"id":396871,"name":"Stuart B. Bauer","orcid":"0000-0003-3412-1962","position":10,"is_corresponding":false},{"id":446553,"name":"Hazem S. Awad","orcid":null,"position":11,"is_corresponding":false},{"id":446552,"name":"Loai Eid","orcid":null,"position":12,"is_corresponding":false},{"id":396870,"name":"Velibor Tasić","orcid":"0000-0002-3377-1245","position":13,"is_corresponding":false},{"id":396872,"name":"Shirlee Shril","orcid":"0000-0003-4218-7566","position":14,"is_corresponding":false},{"id":317473,"name":"Friedhelm Hildebrandt","orcid":"0000-0002-7130-0030","position":15,"is_corresponding":false},{"id":739819,"name":"Bixia Zheng","orcid":"0000-0003-3457-6545","position":0,"is_corresponding":true}],"reference_count":10,"raw_metadata":null,"created_at":"2026-07-18T23:48:38.805613Z","pmid":"34525250","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}