{"id":"https://openalex.org/W7225318435","doi":"https://doi.org/10.1155/crpe/3013437","title":"Growth Impairment and Neurodevelopmental Features in Kabuki Syndrome Type 2: A Case Report With a Novel KDM6A Frameshift Mutation","display_name":"Growth Impairment and Neurodevelopmental Features in Kabuki Syndrome Type 2: A Case Report With a Novel KDM6A Frameshift Mutation","publication_year":2026,"publication_date":"2026-01-01","ids":{"openalex":"https://openalex.org/W7225318435","doi":"https://doi.org/10.1155/crpe/3013437","pmid":"https://pubmed.ncbi.nlm.nih.gov/42991085","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13736172"},"language":"en","primary_location":{"id":"doi:10.1155/crpe/3013437","doi":"https://doi.org/10.1155/crpe/3013437","is_oa":true,"landing_page_url":"https://doi.org/10.1155/crpe/3013437","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/crpe/3013437","source":{"id":"https://openalex.org/S2764406097","display_name":"Case Reports in Pediatrics","issn_l":"2090-6803","issn":["2090-6803","2090-6811"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","norway-1","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310319869","host_organization_name":"Hindawi Publishing Corporation","host_organization_lineage":["https://openalex.org/P4310319869","https://openalex.org/P4310320595"],"host_organization_lineage_names":["Hindawi Publishing Corporation","Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Reports in Pediatrics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/crpe/3013437","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5160910551","display_name":"Sayan Najafzade","orcid":"https://orcid.org/0009-0005-8668-4267","observed_orcids":["https://orcid.org/0009-0005-8668-4267"]},"institutions":[{"id":"https://openalex.org/I41832843","display_name":"University of Tabriz","ror":"https://ror.org/01papkj44","country_code":"IR","type":"education","lineage":["https://openalex.org/I41832843"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Sayan Najafzade","raw_affiliation_strings":["Animal Biology Department Faculty of Natural Sciences University of Tabriz  Tabriz Iran  tabrizu.ac.ir"],"raw_orcid":"https://orcid.org/0009-0005-8668-4267","affiliations":[{"raw_affiliation_string":"Animal Biology Department Faculty of Natural Sciences University of Tabriz  Tabriz Iran  tabrizu.ac.ir","institution_ids":["https://openalex.org/I41832843"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019324722","display_name":"Haneieh Honarmand","orcid":"https://orcid.org/0009-0009-9539-480X","observed_orcids":["https://orcid.org/0009-0009-9539-480X"]},"institutions":[{"id":"https://openalex.org/I41832843","display_name":"University of Tabriz","ror":"https://ror.org/01papkj44","country_code":"IR","type":"education","lineage":["https://openalex.org/I41832843"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Haneieh Honarmand","raw_affiliation_strings":["Animal Biology Department Faculty of Natural Sciences University of Tabriz  Tabriz Iran  tabrizu.ac.ir"],"raw_orcid":"https://orcid.org/0009-0009-9539-480X","affiliations":[{"raw_affiliation_string":"Animal Biology Department Faculty of Natural Sciences University of Tabriz  Tabriz Iran  tabrizu.ac.ir","institution_ids":["https://openalex.org/I41832843"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070116259","display_name":"Mortaza Jabbarpour Bonyadi","orcid":"https://orcid.org/0000-0003-3216-2947","observed_orcids":["https://orcid.org/0000-0003-3216-2947"]},"institutions":[{"id":"https://openalex.org/I41832843","display_name":"University of Tabriz","ror":"https://ror.org/01papkj44","country_code":"IR","type":"education","lineage":["https://openalex.org/I41832843"]}],"countries":["IR"],"is_corresponding":true,"raw_author_name":"Mortaza Bonyadi","raw_affiliation_strings":["Center of Excellence for Biodiversity Faculty of Natural Sciences University of Tabriz  Tabriz Iran  tabrizu.ac.ir"],"raw_orcid":"https://orcid.org/0000-0003-3216-2947","affiliations":[{"raw_affiliation_string":"Center of Excellence for Biodiversity Faculty of Natural Sciences University of Tabriz  Tabriz Iran  tabrizu.ac.ir","institution_ids":["https://openalex.org/I41832843"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5107004597","display_name":"Mohammad Barzegar","orcid":"https://orcid.org/0000-0002-5503-9039","observed_orcids":["https://orcid.org/0000-0002-5503-9039"]},"institutions":[{"id":"https://openalex.org/I163205636","display_name":"Tabriz University of Medical Sciences","ror":"https://ror.org/04krpx645","country_code":"IR","type":"education","lineage":["https://openalex.org/I163205636"]}],"countries":["IR"],"is_corresponding":true,"raw_author_name":"Mohammad Barzegar","raw_affiliation_strings":["Pediatric Health Research Center Mardani Azari Children Hospital Tabriz University of Medical Sciences  Tabriz Iran  tbzmed.ac.ir"],"raw_orcid":"https://orcid.org/0000-0002-5503-9039","affiliations":[{"raw_affiliation_string":"Pediatric Health Research Center Mardani Azari Children Hospital Tabriz University of Medical Sciences  Tabriz Iran  tbzmed.ac.ir","institution_ids":["https://openalex.org/I163205636"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5070116259","https://openalex.org/A5107004597"],"corresponding_institution_ids":["https://openalex.org/I163205636","https://openalex.org/I41832843"],"apc_list":{"value":790,"currency":"USD","value_usd":790},"apc_paid":{"value":790,"currency":"USD","value_usd":790},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.78905203,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"2026","issue":"1","first_page":"3013437","last_page":"3013437"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.7821999788284302,"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"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.7821999788284302,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.1965000033378601,"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/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.002899999963119626,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/kdm6a","display_name":"KDM6A","score":0.9549999833106995},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.9710000157356262},{"id":"https://openalex.org/keywords/nonsense-mediated-mrna-decay","display_name":"nonsense-mediated mRNA decay","score":0.7839999794960022},{"id":"https://openalex.org/keywords/haploinsufficiency","display_name":"haploinsufficiency","score":0.9800000190734863},{"id":"https://openalex.org/keywords/growth-retardation","display_name":"growth retardation","score":0.7990000247955322},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.9940000176429749},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.800000011920929},{"id":"https://openalex.org/keywords/attention-deficit-hyperactivity-disorder","display_name":"attention deficit hyperactivity disorder","score":0.9459999799728394},{"id":"https://openalex.org/keywords/x-linked-inheritance","display_name":"X-linked inheritance","score":0.6600000262260437},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.7099999785423279},{"id":"https://openalex.org/keywords/mutation-spectrum","display_name":"mutation spectrum","score":0.8389999866485596},{"id":"https://openalex.org/keywords/endocrine-manifestations","display_name":"endocrine manifestations","score":0.5730000138282776},{"id":"https://openalex.org/keywords/failure-to-thrive","display_name":"failure to thrive","score":0.609000027179718},{"id":"https://openalex.org/keywords/delayed-bone-age","display_name":"delayed bone age","score":0.6890000104904175},{"id":"https://openalex.org/keywords/atrial-septal-defect","display_name":"atrial septal defect","score":0.871999979019165}],"concepts":[{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.8820000290870667},{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.8266000151634216},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6927000284194946},{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.6610000133514404},{"id":"https://openalex.org/C2777871287","wikidata":"https://www.wikidata.org/wiki/Q7502090","display_name":"Short stature","level":2,"score":0.6377999782562256},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6122000217437744},{"id":"https://openalex.org/C2776672705","wikidata":"https://www.wikidata.org/wiki/Q1538227","display_name":"Kabuki syndrome","level":2,"score":0.6060000061988831},{"id":"https://openalex.org/C2780561973","wikidata":"https://www.wikidata.org/wiki/Q203031","display_name":"Ciliopathy","level":4,"score":0.44110000133514404},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.4106000065803528},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.38679999113082886},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.3831999897956848},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.374099999666214},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.37070000171661377},{"id":"https://openalex.org/C62257209","wikidata":"https://www.wikidata.org/wiki/Q5487490","display_name":"Splice site mutation","level":5,"score":0.3573000133037567},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3393999934196472},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.33820000290870667},{"id":"https://openalex.org/C2779701055","wikidata":"https://www.wikidata.org/wiki/Q929833","display_name":"Rare disease","level":3,"score":0.3278000056743622},{"id":"https://openalex.org/C120599132","wikidata":"https://www.wikidata.org/wiki/Q602889","display_name":"Multiplex ligation-dependent probe amplification","level":4,"score":0.3102000057697296},{"id":"https://openalex.org/C551499885","wikidata":"https://www.wikidata.org/wiki/Q183560","display_name":"Intellectual disability","level":2,"score":0.2953000068664551},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.2874999940395355},{"id":"https://openalex.org/C2777767895","wikidata":"https://www.wikidata.org/wiki/Q4691924","display_name":"Age of onset","level":3,"score":0.26080000400543213},{"id":"https://openalex.org/C137627325","wikidata":"https://www.wikidata.org/wiki/Q156318","display_name":"Etiology","level":2,"score":0.2558000087738037},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.25459998846054077}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1155/crpe/3013437","doi":"https://doi.org/10.1155/crpe/3013437","is_oa":true,"landing_page_url":"https://doi.org/10.1155/crpe/3013437","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/crpe/3013437","source":{"id":"https://openalex.org/S2764406097","display_name":"Case Reports in Pediatrics","issn_l":"2090-6803","issn":["2090-6803","2090-6811"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","norway-1","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310319869","host_organization_name":"Hindawi Publishing Corporation","host_organization_lineage":["https://openalex.org/P4310319869","https://openalex.org/P4310320595"],"host_organization_lineage_names":["Hindawi Publishing Corporation","Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Reports in Pediatrics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13736172","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13736172/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13736172/pdf/CRPE-2026-3013437.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Rep Pediatr","raw_type":"Text"},{"id":"pmid:42991085","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42991085","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case reports in pediatrics","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1155/crpe/3013437","doi":"https://doi.org/10.1155/crpe/3013437","is_oa":true,"landing_page_url":"https://doi.org/10.1155/crpe/3013437","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/crpe/3013437","source":{"id":"https://openalex.org/S2764406097","display_name":"Case Reports in Pediatrics","issn_l":"2090-6803","issn":["2090-6803","2090-6811"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","norway-1","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310319869","host_organization_name":"Hindawi Publishing Corporation","host_organization_lineage":["https://openalex.org/P4310319869","https://openalex.org/P4310320595"],"host_organization_lineage_names":["Hindawi Publishing Corporation","Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Reports in Pediatrics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7225318435.pdf","grobid_xml":"https://content.openalex.org/works/W7225318435.grobid-xml"},"referenced_works_count":31,"referenced_works":["https://openalex.org/W1930152646","https://openalex.org/W1968837117","https://openalex.org/W1984068087","https://openalex.org/W1990182880","https://openalex.org/W2051020333","https://openalex.org/W2051978340","https://openalex.org/W2103441770","https://openalex.org/W2117197109","https://openalex.org/W2119180969","https://openalex.org/W2119426880","https://openalex.org/W2131271579","https://openalex.org/W2137450588","https://openalex.org/W2155445544","https://openalex.org/W2160995259","https://openalex.org/W2162151166","https://openalex.org/W2225287204","https://openalex.org/W2429820528","https://openalex.org/W2742296172","https://openalex.org/W2751637236","https://openalex.org/W2804822363","https://openalex.org/W2889664156","https://openalex.org/W2902757858","https://openalex.org/W3034764341","https://openalex.org/W3045164569","https://openalex.org/W3048478630","https://openalex.org/W3128701244","https://openalex.org/W3135557210","https://openalex.org/W3204131115","https://openalex.org/W3205267090","https://openalex.org/W4247053599","https://openalex.org/W4297973216"],"related_works":["https://openalex.org/W3135445976","https://openalex.org/W1549532325","https://openalex.org/W2429820528","https://openalex.org/W2983055781","https://openalex.org/W1987356543","https://openalex.org/W4386992803","https://openalex.org/W3135557210","https://openalex.org/W4399264593","https://openalex.org/W2795619153","https://openalex.org/W7223829998"],"abstract_inverted_index":{"Kabuki":[0],"syndrome":[1,14,25],"(KS),":[2],"a":[3,45,88,101,208],"rare":[4],"epigenetic":[5],"disorder,":[6],"arises":[7],"from":[8,111,172],"pathogenic":[9],"variants":[10],"in":[11,105,126,181],"KMT2D":[12],"(Kabuki":[13,24],"Type":[15,26],"1":[16],"[KS1];":[17],"70%\u201375%":[18],"of":[19,30,140,155,161,164,178,188,199,218,233],"the":[20,31,118,135,147,152,176,186,189,195,215,228],"cases)":[21],"or":[22],"KDM6A":[23,90,143],"2":[27],"[KS2];":[28],"5%\u201310%":[29],"cases),":[32],"exhibiting":[33],"autosomal":[34],"dominant":[35,38],"and":[36,56,81,169,201,223,226,230],"X\u2010linked":[37,153],"inheritance":[39],"patterns,":[40],"respectively.":[41],"This":[42,128],"study":[43],"describes":[44],"13\u2010year\u2010old":[46],"girl":[47],"with":[48,134,151],"classic":[49],"KS2":[50,200],"manifestations":[51],"including":[52],"intellectual":[53],"disability,":[54],"ADHD,":[55],"short":[57],"stature":[58],"(height":[59],"130":[60],"cm,":[61],"<":[62],"3rd":[63],"percentile),":[64],"alongside":[65],"characteristic":[66],"dysmorphic":[67],"features.":[68],"Her":[69],"clinical":[70,216],"history":[71],"revealed":[72],"spontaneous":[73],"atrial":[74],"septal":[75],"defect":[76],"closure,":[77],"failure":[78],"to":[79],"thrive,":[80],"delayed":[82],"bone":[83],"age.":[84],"Whole\u2010exome":[85],"sequencing":[86],"uncovered":[87],"novel":[89],"frameshift":[91],"variant":[92,119,180,190],"(c.1083_1084delCT),":[93],"confirmed":[94],"as":[95],"de":[96],"novo":[97],",":[98],"which":[99],"introduces":[100],"premature":[102],"termination":[103],"codon":[104],"exon":[106],"12":[107],"(>":[108],"50":[109],"bp":[110],"splice":[112],"junctions).":[113],"Computational":[114],"predictions":[115],"suggest":[116,202],"that":[117,203],"likely":[120],"triggers":[121],"nonsense\u2010mediated":[122],"decay":[123],"(NMD),":[124],"resulting":[125],"haploinsufficiency.":[127],"predicted":[129],"NMD\u2010mediated":[130,204],"haploinsufficiency":[131,205],"is":[132,144],"consistent":[133,150],"established":[136],"loss\u2010of\u2010function":[137],"disease":[138],"mechanism":[139],"KDM6A\u2010associated":[141,234],"KS2.":[142,235],"located":[145],"on":[146],"X":[148],"chromosome,":[149],"classification":[154],"this":[156,179],"condition.":[157],"Population":[158],"studies\u2014including":[159],"analysis":[160],"our":[162],"cohort":[163],"500":[165],"ethnically":[166],"matched":[167],"individuals":[168],"published":[170],"data":[171],"resources":[173],"like":[174],"gnomAD\u2014demonstrate":[175],"absence":[177],"healthy":[182],"populations,":[183],"further":[184],"supporting":[185],"rarity":[187],"(PM2).":[191],"These":[192],"findings":[193],"expand":[194],"known":[196],"mutational":[197,229],"spectrum":[198,232],"may":[206],"represent":[207],"key":[209],"molecular":[210],"mechanism.":[211],"The":[212],"case":[213],"highlights":[214],"distinctiveness":[217],"KS2,":[219],"particularly":[220],"its":[221],"endocrine":[222],"growth\u2010related":[224],"manifestations,":[225],"expands":[227],"phenotypic":[231]},"counts_by_year":[],"updated_date":"2026-11-09T13:22:03.289127","created_date":"2026-11-06T00:00:00"}
