{"id":"https://openalex.org/W7225629093","doi":"https://doi.org/10.3389/fgene.2026.1940592","title":"Case Report: Whole-exome sequencing revealing a novel PBX1 gene variant in a Chinese family with renal hypoplasia","display_name":"Case Report: Whole-exome sequencing revealing a novel PBX1 gene variant in a Chinese family with renal hypoplasia","publication_year":2026,"publication_date":"2026-11-09","ids":{"openalex":"https://openalex.org/W7225629093","doi":"https://doi.org/10.3389/fgene.2026.1940592"},"language":"en","primary_location":{"id":"doi:10.3389/fgene.2026.1940592","doi":"https://doi.org/10.3389/fgene.2026.1940592","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fgene.2026.1940592","pdf_url":"https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2026.1940592/pdf","source":{"id":"https://openalex.org/S2597340651","display_name":"Frontiers in Genetics","issn_l":"1664-8021","issn":["1664-8021"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","jufo-1","ki-jl-1","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2026.1940592/pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5076434951","display_name":"Wenqi Chen","orcid":"https://orcid.org/0000-0002-1953-8383","observed_orcids":["https://orcid.org/0000-0002-1953-8383","https://orcid.org/0000-0002-7905-0689"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Wen-qi Chen","raw_affiliation_strings":["Prenatal Diagnosis Center, Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang Obstetrics and Gynecology Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Prenatal Diagnosis Center, Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang Obstetrics and Gynecology Hospital","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015770576","display_name":"Yanxin Meng","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yan-xin Meng","raw_affiliation_strings":["Prenatal Diagnosis Center, Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang Obstetrics and Gynecology Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Prenatal Diagnosis Center, Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang Obstetrics and Gynecology Hospital","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102656769","display_name":"Ke-Na Hu","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ke-na Hu","raw_affiliation_strings":["Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang Obstetrics and Gynecology Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang Obstetrics and Gynecology Hospital","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002176206","display_name":"Xiaolin Hou","orcid":"https://orcid.org/0000-0001-8394-1866","observed_orcids":["https://orcid.org/0000-0001-8394-1866"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Xiao-lin Hou","raw_affiliation_strings":["Prenatal Diagnosis Center, Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang Obstetrics and Gynecology Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Prenatal Diagnosis Center, Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang Obstetrics and Gynecology Hospital","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5161354221","display_name":"Jun Duan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jun Duan","raw_affiliation_strings":["Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang Key Laboratory of Reproductive Health, Radiology Department, Shijiazhuang Obstetrics and Gynecology Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang Key Laboratory of Reproductive Health, Radiology Department, Shijiazhuang Obstetrics and Gynecology Hospital","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5139782908","display_name":"Zhao-xi Wang","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Zhao-xi Wang","raw_affiliation_strings":["Prenatal Diagnosis Center, Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang Obstetrics and Gynecology Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Prenatal Diagnosis Center, Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang Obstetrics and Gynecology Hospital","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000459340","display_name":"Kai Yang","orcid":"https://orcid.org/0000-0003-0118-9370","observed_orcids":["https://orcid.org/0000-0003-0118-9370"]},"institutions":[{"id":"https://openalex.org/I183519381","display_name":"Capital Medical University","ror":"https://ror.org/013xs5b60","country_code":"CN","type":"education","lineage":["https://openalex.org/I183519381"]},{"id":"https://openalex.org/I4210163952","display_name":"Beijing Obstetrics and Gynecology Hospital","ror":"https://ror.org/05787my06","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210163952"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Kai Yang","raw_affiliation_strings":["Prenatal Diagnosis Center, Beijing Maternal and Child Healthcare Hospital, Beijing Obstetrics and Gynecology Hospital, Capital Medical University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Prenatal Diagnosis Center, Beijing Maternal and Child Healthcare Hospital, Beijing Obstetrics and Gynecology Hospital, Capital Medical University","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210163952"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5161306111","display_name":"Hua-ying Hu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802939634","display_name":"Chinese PLA General Hospital","ror":"https://ror.org/04gw3ra78","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I2802939634"]},{"id":"https://openalex.org/I4210119648","display_name":"Beijing Hospital","ror":"https://ror.org/02jwb5s28","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210119648"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Hua-ying Hu","raw_affiliation_strings":["Jiaen Genetics Laboratory, Beijing Jiaen Hospital","Medical Innovation Research Division, Chinese PLA General Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Jiaen Genetics Laboratory, Beijing Jiaen Hospital","institution_ids":["https://openalex.org/I4210119648"]},{"raw_affiliation_string":"Medical Innovation Research Division, Chinese PLA General Hospital","institution_ids":["https://openalex.org/I2802939634"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5161322289","display_name":"Jing Zhang","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Jing Zhang","raw_affiliation_strings":["Prenatal Diagnosis Center, Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang Obstetrics and Gynecology Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Prenatal Diagnosis Center, Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang Obstetrics and Gynecology Hospital","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5161306111","https://openalex.org/A5161322289"],"corresponding_institution_ids":["https://openalex.org/I2802939634","https://openalex.org/I4210119648"],"apc_list":{"value":3150,"currency":"CHF","value_usd":3801},"apc_paid":{"value":3150,"currency":"CHF","value_usd":3801},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"17","issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12140","display_name":"Renal and related cancers","score":0.7764000296592712,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12140","display_name":"Renal and related cancers","score":0.7764000296592712,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.12700000405311584,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11815","display_name":"Urological Disorders and Treatments","score":0.02879999950528145,"subfield":{"id":"https://openalex.org/subfields/2748","display_name":"Urology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/pbx1","display_name":"PBX1","score":0.9629999995231628},{"id":"https://openalex.org/keywords/renal-hypoplasia","display_name":"renal hypoplasia","score":0.8920000195503235},{"id":"https://openalex.org/keywords/congenital-anomalies-of-the-kidney-and-urinary-tract","display_name":"congenital anomalies of the kidney and urinary tract","score":0.9340000152587891},{"id":"https://openalex.org/keywords/novel-genetic-variants","display_name":"novel genetic variants","score":0.7409999966621399},{"id":"https://openalex.org/keywords/premature-termination-codon","display_name":"premature stop codon","score":0.8220000267028809},{"id":"https://openalex.org/keywords/loss-of-function","display_name":"loss of function","score":0.7390000224113464},{"id":"https://openalex.org/keywords/haploinsufficiency","display_name":"haploinsufficiency","score":0.9959999918937683},{"id":"https://openalex.org/keywords/nonsense-mediated-mrna-decay","display_name":"nonsense-mediated mRNA decay","score":0.8759999871253967},{"id":"https://openalex.org/keywords/homeodomain","display_name":"homeodomain","score":0.8169999718666077},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.7409999966621399},{"id":"https://openalex.org/keywords/family-segregation-analysis","display_name":"family segregation analysis","score":0.4129999876022339},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.7229999899864197},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.9129999876022339}],"concepts":[{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.8090000152587891},{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.7858999967575073},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7515000104904175},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6909000277519226},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5541999936103821},{"id":"https://openalex.org/C162317418","wikidata":"https://www.wikidata.org/wiki/Q252857","display_name":"Transcriptome","level":4,"score":0.5008999705314636},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.44110000133514404},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.42879998683929443},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.36410000920295715},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.361299991607666},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.35179999470710754},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.33809998631477356},{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.33550000190734863},{"id":"https://openalex.org/C2781218831","wikidata":"https://www.wikidata.org/wiki/Q669435","display_name":"Renal agenesis","level":3,"score":0.3343000113964081},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.32330000400543213},{"id":"https://openalex.org/C121587040","wikidata":"https://www.wikidata.org/wiki/Q898769","display_name":"Homeobox","level":4,"score":0.31769999861717224},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.310699999332428},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.3084000051021576},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.3059000074863434},{"id":"https://openalex.org/C8415881","wikidata":"https://www.wikidata.org/wiki/Q6839217","display_name":"Microarray analysis techniques","level":4,"score":0.3043000102043152},{"id":"https://openalex.org/C186836561","wikidata":"https://www.wikidata.org/wiki/Q1931516","display_name":"Microarray","level":4,"score":0.2930999994277954},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.27950000762939453},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.2784999907016754},{"id":"https://openalex.org/C125009961","wikidata":"https://www.wikidata.org/wiki/Q2342248","display_name":"Pyrosequencing","level":3,"score":0.2671000063419342},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.2615000009536743},{"id":"https://openalex.org/C192800701","wikidata":"https://www.wikidata.org/wiki/Q6784807","display_name":"Massive parallel sequencing","level":4,"score":0.25540000200271606}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.3389/fgene.2026.1940592","doi":"https://doi.org/10.3389/fgene.2026.1940592","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fgene.2026.1940592","pdf_url":"https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2026.1940592/pdf","source":{"id":"https://openalex.org/S2597340651","display_name":"Frontiers in Genetics","issn_l":"1664-8021","issn":["1664-8021"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","jufo-1","ki-jl-1","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Genetics","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.3389/fgene.2026.1940592","doi":"https://doi.org/10.3389/fgene.2026.1940592","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fgene.2026.1940592","pdf_url":"https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2026.1940592/pdf","source":{"id":"https://openalex.org/S2597340651","display_name":"Frontiers in Genetics","issn_l":"1664-8021","issn":["1664-8021"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","jufo-1","ki-jl-1","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7225629093.pdf","grobid_xml":"https://content.openalex.org/works/W7225629093.grobid-xml"},"referenced_works_count":23,"referenced_works":["https://openalex.org/W1903692288","https://openalex.org/W1990475883","https://openalex.org/W1997936885","https://openalex.org/W1999466077","https://openalex.org/W2002438570","https://openalex.org/W2054770977","https://openalex.org/W2060809301","https://openalex.org/W2060872117","https://openalex.org/W2064705349","https://openalex.org/W2088434084","https://openalex.org/W2109154308","https://openalex.org/W2594176963","https://openalex.org/W2619033859","https://openalex.org/W2757522673","https://openalex.org/W2804822363","https://openalex.org/W2945401863","https://openalex.org/W3010621398","https://openalex.org/W3030839565","https://openalex.org/W4226213139","https://openalex.org/W4307968982","https://openalex.org/W4312128783","https://openalex.org/W4388464011","https://openalex.org/W4401915786"],"related_works":["https://openalex.org/W4307968982","https://openalex.org/W2619033859","https://openalex.org/W7148752595","https://openalex.org/W2770278339","https://openalex.org/W7134894833","https://openalex.org/W3213756491","https://openalex.org/W4226213139","https://openalex.org/W4415780880","https://openalex.org/W2888728741","https://openalex.org/W2594176963"],"abstract_inverted_index":{"Background":[0],"and":[1,8,34,64,71,81,88,98,127,150,160,209,240,256,265,279],"Aims":[2],"Congenital":[3],"Anomalies":[4],"of":[5,28,31,54,67,173,217,232],"the":[6,32,55,110,130,134,147,170,174,200,204,213,233],"Kidney":[7],"Urinary":[9],"Tract":[10],"with":[11,38,109,129,153,192,199,212,226],"or":[12,18],"without":[13],"Hearing":[14],"Loss,":[15],"Abnormal":[16],"Ears,":[17],"Developmental":[19],"Delay":[20],"(CAKUTHED)":[21],"is":[22,47,151,210,223],"an":[23,246],"autosomal":[24],"dominant":[25],"syndromic":[26],"form":[27],"congenital":[29],"anomalies":[30],"kidney":[33],"urinary":[35],"tract":[36],"associated":[37,108],"heterozygous":[39,116,181],"pathogenic":[40],"variants":[41],"in":[42,91,188],"PBX1":[43,117,148,182],".":[44],"The":[45,139,196,220,254],"disorder":[46],"characterized":[48],"by":[49,79,124],"marked":[50],"phenotypic":[51],"variability.":[52],"Identification":[53],"underlying":[56],"genetic":[57,65],"variant":[58,140,197],"can":[59],"facilitate":[60],"accurate":[61],"prenatal":[62],"diagnosis":[63],"counselling":[66],"affected":[68,78],"families.":[69],"Materials":[70],"Methods":[72],"We":[73,177],"recruited":[74],"a":[75,142,154,179,189,227,241],"Chinese":[76,190],"family":[77,93,137,191,207],"CAKUTHED":[80],"performed":[82,103],"chromosomal":[83],"microarray":[84],"analysis,":[85],"whole-exome":[86,125],"sequencing,":[87],"Sanger":[89],"validation":[90],"available":[92,135,205,221],"members.":[94,138],"Exploratory":[95,158],"conservation,":[96],"structural,":[97],"transcriptomic":[99,161,255],"analyses":[100,162],"were":[101],"subsequently":[102],"to":[104,284],"investigate":[105],"potential":[106,242,288],"consequences":[107],"identified":[111,123,178],"variant.":[112,175],"Results":[113],"A":[114],"novel":[115,180],"variant,":[118,183],"c.780C":[119,185],">":[120,186],"A(p.Y260X),":[121,187],"was":[122,236],"sequencing":[126],"co-segregated":[128,198],"renal":[131,194,201],"phenotype":[132,202],"among":[133,203],"tested":[136,206],"introduces":[141],"premature":[143],"termination":[144],"codon":[145],"within":[146],"homeodomain":[149],"consistent":[152,211,225],"predicted":[155],"loss-of-function":[156,215],"effect.":[157],"structural":[159],"yielded":[163],"hypothesis-generating":[164,266],"observations":[165],"but":[166],"did":[167],"not":[168,237],"establish":[169],"molecular":[171,257],"mechanism":[172],"Conclusion":[176],"NM_002585.4:":[184],"familial":[193],"hypoplasia.":[195],"members":[208],"established":[214],"spectrum":[216],"PBX1-related":[218],"CAKUTHED.":[219],"evidence":[222],"most":[224],"haploinsufficiency":[228],"mechanism;":[229],"however,":[230],"NMD":[231],"mutant":[234],"allele":[235],"directly":[238],"demonstrated,":[239],"dominant-negative":[243],"contribution":[244],"from":[245],"NMD-escaped":[247],"truncated":[248],"protein":[249,275],"cannot":[250],"be":[251,261],"formally":[252],"excluded.":[253],"dynamics":[258],"findings":[259],"should":[260],"regarded":[262],"as":[263],"exploratory":[264],"observations.":[267],"Further":[268],"allele-specific":[269],"RNA":[270],"analyses,":[271],"NMD-inhibition":[272],"experiments,":[273],"direct":[274],"detection,":[276],"replicated":[277],"simulations,":[278],"functional":[280],"assays":[281],"are":[282],"required":[283],"distinguish":[285],"between":[286],"these":[287],"mechanisms.":[289]},"counts_by_year":[],"updated_date":"2026-11-11T12:16:26.678958","created_date":"2026-11-10T00:00:00"}
