{"id":"https://openalex.org/W4306912952","doi":"https://doi.org/10.1002/ajmg.a.62991","title":"ALDH1A2\u2010related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway","display_name":"ALDH1A2\u2010related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway","publication_year":2022,"publication_date":"2022-10-19","ids":{"openalex":"https://openalex.org/W4306912952","doi":"https://doi.org/10.1002/ajmg.a.62991","pmid":"https://pubmed.ncbi.nlm.nih.gov/36263470","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/9805811"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.a.62991","doi":"https://doi.org/10.1002/ajmg.a.62991","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.62991","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9805811","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5001447967","display_name":"Eyby L. Leon","orcid":"https://orcid.org/0000-0002-1852-2849","observed_orcids":["https://orcid.org/0000-0002-1852-2849"]},"institutions":[{"id":"https://openalex.org/I1336742384","display_name":"Children's National","ror":"https://ror.org/03wa2q724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336742384"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Eyby Leon","raw_affiliation_strings":["Rare Disease Institute Children's National Hospital Washington DC USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rare Disease Institute Children's National Hospital Washington DC USA","institution_ids":["https://openalex.org/I1336742384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082151528","display_name":"Claris Nde","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1336742384","display_name":"Children's National","ror":"https://ror.org/03wa2q724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336742384"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Claris Nde","raw_affiliation_strings":["Center for Genetic Medicine Children's National Hospital Washington DC USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Genetic Medicine Children's National Hospital Washington DC USA","institution_ids":["https://openalex.org/I1336742384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078042047","display_name":"Randall S. Ray","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1336742384","display_name":"Children's National","ror":"https://ror.org/03wa2q724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336742384"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Randall S. Ray","raw_affiliation_strings":["Rare Disease Institute Children's National Hospital Washington DC USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rare Disease Institute Children's National Hospital Washington DC USA","institution_ids":["https://openalex.org/I1336742384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082158805","display_name":"Diego A. Preciado","orcid":"https://orcid.org/0000-0003-0075-8279","observed_orcids":["https://orcid.org/0000-0003-0075-8279"]},"institutions":[{"id":"https://openalex.org/I1336742384","display_name":"Children's National","ror":"https://ror.org/03wa2q724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336742384"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Diego Preciado","raw_affiliation_strings":["Division of Pediatric Otolaryngology Children's National Hospital Washington DC USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Otolaryngology Children's National Hospital Washington DC USA","institution_ids":["https://openalex.org/I1336742384"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5000052827","display_name":"Irene E. Zohn","orcid":"https://orcid.org/0000-0001-7688-682X","observed_orcids":["https://orcid.org/0000-0001-7688-682X"]},"institutions":[{"id":"https://openalex.org/I1336742384","display_name":"Children's National","ror":"https://ror.org/03wa2q724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336742384"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Irene E. Zohn","raw_affiliation_strings":["Center for Genetic Medicine Children's National Hospital Washington DC USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Genetic Medicine Children's National Hospital Washington DC USA","institution_ids":["https://openalex.org/I1336742384"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5001447967"],"corresponding_institution_ids":["https://openalex.org/I1336742384"],"apc_list":{"value":4200,"currency":"USD","value_usd":4200},"apc_paid":null,"fwci":6.1051,"has_fulltext":false,"cited_by_count":14,"citation_normalized_percentile":{"value":0.98357964,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"191","issue":"1","first_page":"90","last_page":"99"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13107","display_name":"Congenital limb and hand anomalies","score":0.30300000309944153,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental Biology"},"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/T13107","display_name":"Congenital limb and hand anomalies","score":0.30300000309944153,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental Biology"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.2502000033855438,"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/T11559","display_name":"Retinoids in leukemia and cellular processes","score":0.15479999780654907,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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"}}],"keywords":[{"id":"https://openalex.org/keywords/aldh1a2","display_name":"ALDH1A2","score":0.9990000128746033},{"id":"https://openalex.org/keywords/retinoic-acid-pathway","display_name":"retinoic acid pathway","score":0.8579999804496765},{"id":"https://openalex.org/keywords/congenital-malformation-syndrome","display_name":"congenital malformation syndrome","score":0.6639999747276306},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.796999990940094},{"id":"https://openalex.org/keywords/biallelic-pathogenic-variants","display_name":"biallelic pathogenic variants","score":0.8579999804496765},{"id":"https://openalex.org/keywords/tetralogy-of-fallot","display_name":"tetralogy of Fallot","score":0.9800000190734863},{"id":"https://openalex.org/keywords/diaphragmatic-eventration","display_name":"diaphragmatic eventration","score":0.9860000014305115},{"id":"https://openalex.org/keywords/clubfoot","display_name":"clubfoot","score":0.9629999995231628},{"id":"https://openalex.org/keywords/hypocalcemia","display_name":"hypocalcemia","score":0.8650000095367432},{"id":"https://openalex.org/keywords/dysmorphism","display_name":"dysmorphic features","score":0.8740000128746033},{"id":"https://openalex.org/keywords/vitamin-a-metabolism","display_name":"vitamin A metabolism","score":0.7879999876022339}],"concepts":[{"id":"https://openalex.org/C2781121885","wikidata":"https://www.wikidata.org/wiki/Q425517","display_name":"Retinoic acid","level":3,"score":0.6281998157501221},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5934097766876221},{"id":"https://openalex.org/C2777146472","wikidata":"https://www.wikidata.org/wiki/Q2163245","display_name":"Congenital diaphragmatic hernia","level":4,"score":0.5772417187690735},{"id":"https://openalex.org/C2779375456","wikidata":"https://www.wikidata.org/wiki/Q994859","display_name":"Homocystinuria","level":4,"score":0.52880859375},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.45735660195350647},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4562259316444397},{"id":"https://openalex.org/C2776395126","wikidata":"https://www.wikidata.org/wiki/Q431643","display_name":"Microcephaly","level":2,"score":0.4299386143684387},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.28813543915748596},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.22601845860481262},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.1687556803226471},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.13361412286758423},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.0},{"id":"https://openalex.org/C2780912031","wikidata":"https://www.wikidata.org/wiki/Q180341","display_name":"Methionine","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000080924","descriptor_name":"Aldehyde Dehydrogenase 1 Family","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000080924","descriptor_name":"Aldehyde Dehydrogenase 1 Family","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014212","descriptor_name":"Tretinoin","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D050697","descriptor_name":"Retinal Dehydrogenase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1002/ajmg.a.62991","doi":"https://doi.org/10.1002/ajmg.a.62991","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.62991","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},{"id":"pmid:36263470","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/36263470","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":"American journal of medical genetics. Part A","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:9805811","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9805811","pdf_url":null,"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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Am J Med Genet A","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:9805811","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9805811","pdf_url":null,"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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Am J Med Genet A","raw_type":"Text"},"sustainable_development_goals":[{"score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G1918462965","display_name":"Regulation of Cranial Mesenchyme Expansion Driving Neural Fold Elevation","funder_award_id":"R01HD098861","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G3928358225","display_name":"District of Columbia Intellectual and Developmental Disabilities Research Center","funder_award_id":"U54HD090257","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G9000877820","display_name":"District of Columbia Intellectual and Developmental Disabilities Research Center (DC-IDDRC)","funder_award_id":"P50HD105328","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G9000887364","display_name":"Gene x Environment Interactions and Congenital Heart Defects \u2013 Illuminating the Mechanisms","funder_award_id":"R01HD113214","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":31,"referenced_works":["https://openalex.org/W1569224463","https://openalex.org/W1892244983","https://openalex.org/W1968317195","https://openalex.org/W1973055339","https://openalex.org/W1988878467","https://openalex.org/W2002923824","https://openalex.org/W2019928465","https://openalex.org/W2040213004","https://openalex.org/W2051978340","https://openalex.org/W2054318181","https://openalex.org/W2054557300","https://openalex.org/W2074019299","https://openalex.org/W2097294303","https://openalex.org/W2103945987","https://openalex.org/W2104197938","https://openalex.org/W2107996839","https://openalex.org/W2123878413","https://openalex.org/W2142877387","https://openalex.org/W2147308020","https://openalex.org/W2147623970","https://openalex.org/W2256016639","https://openalex.org/W2327216827","https://openalex.org/W2524256865","https://openalex.org/W2556713454","https://openalex.org/W2588788226","https://openalex.org/W2782410161","https://openalex.org/W2788119281","https://openalex.org/W2796403742","https://openalex.org/W2923763110","https://openalex.org/W3126891393","https://openalex.org/W4220952537"],"related_works":["https://openalex.org/W3126891393","https://openalex.org/W2104197938","https://openalex.org/W2001231501","https://openalex.org/W2136869125","https://openalex.org/W4362459542","https://openalex.org/W4406000244","https://openalex.org/W4403848070","https://openalex.org/W6976333150","https://openalex.org/W4396896456","https://openalex.org/W2068303089"],"abstract_inverted_index":{"Aldehyde":[0],"Dehydrogenase":[1],"1,":[2],"Family":[3],"Member":[4],"A2":[5],"(ALDH1A2)":[6],"is":[7],"essential":[8],"for":[9,26,134],"the":[10,99,102,143],"synthesis":[11],"of":[12,67,93,101,114,126],"retinoic":[13],"acid":[14],"from":[15],"vitamin":[16],"A.":[17],"Studies":[18],"in":[19,28,40,56,86,119],"model":[20],"organisms":[21],"demonstrate":[22],"a":[23,111,123],"critical":[24],"role":[25],"ALDH1A2":[27,116],"embryonic":[29],"development,":[30],"yet":[31],"few":[32],"pathogenic":[33,117],"variants":[34,55,94,118],"are":[35,83],"linked":[36,51],"to":[37,52,110],"congenital":[38,48,60,127],"anomalies":[39],"humans.":[41],"We":[42],"present":[43],"three":[44],"siblings":[45],"with":[46,122],"multiple":[47],"anomaly":[49],"syndrome":[50,141],"biallelic":[53,115],"sequence":[54],"ALDH1A2.":[57],"The":[58],"major":[59],"malformations":[61],"affecting":[62],"these":[63],"children":[64],"include":[65],"tetralogy":[66],"Fallot,":[68],"absent":[69],"thymus,":[70],"diaphragmatic":[71],"eventration,":[72],"and":[73,80,106,146],"talipes":[74],"equinovarus.":[75],"Upper":[76],"airway":[77],"anomalies,":[78],"hypocalcemia,":[79],"dysmorphic":[81],"features":[82],"newly":[84],"reported":[85],"this":[87],"manuscript.":[88],"In":[89],"vitro":[90],"functional":[91,107],"validation":[92],"indicated":[95],"that":[96],"substitutions":[97],"reduced":[98],"expression":[100],"enzyme.":[103],"Our":[104],"clinical":[105],"data":[108],"adds":[109],"recent":[112],"report":[113],"two":[120],"families":[121],"similar":[124],"constellation":[125],"malformations.":[128],"These":[129],"findings":[130],"provide":[131],"further":[132],"evidence":[133],"an":[135],"autosomal":[136],"recessive":[137],"ALDH1A2-deficient":[138],"recognizable":[139],"malformation":[140],"involving":[142],"diaphragm,":[144],"cardiac":[145],"musculoskeletal":[147],"systems.":[148]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":3}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2022-10-21T00:00:00"}