{"id":"https://openalex.org/W3080947367","doi":"https://doi.org/10.2147/tacg.s261781","title":"A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature","display_name":"A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature","publication_year":2020,"publication_date":"2020-08-01","ids":{"openalex":"https://openalex.org/W3080947367","doi":"https://doi.org/10.2147/tacg.s261781","mag":"3080947367","pmid":"https://pubmed.ncbi.nlm.nih.gov/32943903","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/7459142"},"language":"en","primary_location":{"id":"doi:10.2147/tacg.s261781","doi":"https://doi.org/10.2147/tacg.s261781","is_oa":true,"landing_page_url":"https://doi.org/10.2147/tacg.s261781","pdf_url":null,"source":{"id":"https://openalex.org/S2764354353","display_name":"The Application of Clinical Genetics","issn_l":"1178-704X","issn":["1178-704X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","norway-1","oarl","poland-200","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320348","host_organization_name":"Dove Medical Press","host_organization_lineage":["https://openalex.org/P4310320348","https://openalex.org/P4310320547"],"host_organization_lineage_names":["Dove Medical Press","Taylor & Francis"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Application of Clinical Genetics","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://doi.org/10.2147/tacg.s261781","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5064194454","display_name":"Amir Hossein Karimi","orcid":"https://orcid.org/0000-0002-7697-2741","observed_orcids":["https://orcid.org/0000-0002-7697-2741"]},"institutions":[{"id":"https://openalex.org/I928334797","display_name":"Semnan University","ror":"https://ror.org/029gksw03","country_code":"IR","type":"education","lineage":["https://openalex.org/I928334797"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Amir Hossein Karimi","raw_affiliation_strings":["Department of Biology, Faculty of Basic Sciences, Semnan University, Semnan, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biology, Faculty of Basic Sciences, Semnan University, Semnan, Iran","institution_ids":["https://openalex.org/I928334797"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101815489","display_name":"Mohammad Reza Karimi","orcid":"https://orcid.org/0000-0003-4749-5613","observed_orcids":["https://orcid.org/0000-0003-4749-5613"]},"institutions":[{"id":"https://openalex.org/I928334797","display_name":"Semnan University","ror":"https://ror.org/029gksw03","country_code":"IR","type":"education","lineage":["https://openalex.org/I928334797"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Mohammad Reza Karimi","raw_affiliation_strings":["Department of Biology, Faculty of Basic Sciences, Semnan University, Semnan, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biology, Faculty of Basic Sciences, Semnan University, Semnan, Iran","institution_ids":["https://openalex.org/I928334797"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033275008","display_name":"Poopak Farnia","orcid":"https://orcid.org/0000-0003-3190-2827","observed_orcids":["https://orcid.org/0000-0003-3190-2827"]},"institutions":[{"id":"https://openalex.org/I3019658157","display_name":"Masih Daneshvari Hospital","ror":"https://ror.org/039mjhc39","country_code":"IR","type":"healthcare","lineage":["https://openalex.org/I3019658157"]},{"id":"https://openalex.org/I48379061","display_name":"Shahid Beheshti University","ror":"https://ror.org/0091vmj44","country_code":"IR","type":"education","lineage":["https://openalex.org/I48379061"]},{"id":"https://openalex.org/I58048189","display_name":"Shahid Beheshti University of Medical Sciences","ror":"https://ror.org/034m2b326","country_code":"IR","type":"education","lineage":["https://openalex.org/I58048189"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Poopak Farnia","raw_affiliation_strings":["Department of Biotechnology, School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran","Mycobacteriology Research Centre (MRC), National Research Institute of Tuberculosis and Lung Disease (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biotechnology, School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran","institution_ids":["https://openalex.org/I48379061","https://openalex.org/I58048189"]},{"raw_affiliation_string":"Mycobacteriology Research Centre (MRC), National Research Institute of Tuberculosis and Lung Disease (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran","institution_ids":["https://openalex.org/I3019658157","https://openalex.org/I58048189"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074132915","display_name":"Farshid Parvini","orcid":"https://orcid.org/0000-0002-8136-3254","observed_orcids":["https://orcid.org/0000-0002-8136-3254"]},"institutions":[{"id":"https://openalex.org/I928334797","display_name":"Semnan University","ror":"https://ror.org/029gksw03","country_code":"IR","type":"education","lineage":["https://openalex.org/I928334797"]}],"countries":["IR"],"is_corresponding":true,"raw_author_name":"Farshid Parvini","raw_affiliation_strings":["Department of Biology, Faculty of Basic Sciences, Semnan University, Semnan, Iran"],"raw_orcid":"https://orcid.org/0000-0002-8136-3254","affiliations":[{"raw_affiliation_string":"Department of Biology, Faculty of Basic Sciences, Semnan University, Semnan, Iran","institution_ids":["https://openalex.org/I928334797"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5034305372","display_name":"Majid Foroutan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210154083","display_name":"Semnan University of Medical Sciences","ror":"https://ror.org/05y44as61","country_code":"IR","type":"education","lineage":["https://openalex.org/I4210154083"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Majid Foroutan","raw_affiliation_strings":["Department of Internal Medicine, Semnan University of Medical Sciences, Semnan, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Semnan University of Medical Sciences, Semnan, Iran","institution_ids":["https://openalex.org/I4210154083"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5074132915"],"corresponding_institution_ids":["https://openalex.org/I928334797"],"apc_list":{"value":2320,"currency":"USD","value_usd":2320},"apc_paid":{"value":2320,"currency":"USD","value_usd":2320},"fwci":0.9583,"has_fulltext":true,"cited_by_count":17,"citation_normalized_percentile":{"value":0.70667456,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"Volume 13","issue":null,"first_page":"151","last_page":"157"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.8525000214576721,"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":0.8525000214576721,"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":0.09390000253915787,"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/T10493","display_name":"Ion channel regulation and function","score":0.02410000003874302,"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/nalcn","display_name":"NALCN","score":0.8320000171661377},{"id":"https://openalex.org/keywords/homozygous-nonsense-mutation","display_name":"homozygous nonsense mutation","score":0.9480000138282776},{"id":"https://openalex.org/keywords/infantile-hypotonia","display_name":"infantile hypotonia","score":0.875},{"id":"https://openalex.org/keywords/psychomotor-retardation","display_name":"psychomotor retardation","score":0.9359999895095825},{"id":"https://openalex.org/keywords/global-developmental-delay","display_name":"global developmental delay","score":0.7860000133514404},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.9480000138282776},{"id":"https://openalex.org/keywords/dysmorphism","display_name":"dysmorphic features","score":0.8040000200271606},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.902999997138977},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.9950000047683716},{"id":"https://openalex.org/keywords/sex-differences","display_name":"sex differences","score":0.6019999980926514},{"id":"https://openalex.org/keywords/clinical-spectrum","display_name":"clinical spectrum","score":0.5590000152587891}],"concepts":[{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.8605189323425293},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.7203423380851746},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6947774887084961},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6694097518920898},{"id":"https://openalex.org/C2776202747","wikidata":"https://www.wikidata.org/wiki/Q3064951","display_name":"Psychomotor retardation","level":3,"score":0.6396263837814331},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6332554817199707},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4746216833591461},{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.4505288898944855},{"id":"https://openalex.org/C2779674439","wikidata":"https://www.wikidata.org/wiki/Q25312637","display_name":"Global developmental delay","level":4,"score":0.4382585287094116},{"id":"https://openalex.org/C62923972","wikidata":"https://www.wikidata.org/wiki/Q600499","display_name":"Nonsense","level":3,"score":0.4239000082015991},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3968764543533325},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.312314510345459},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.28919464349746704},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.18233722448349},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.13385674357414246},{"id":"https://openalex.org/C204787440","wikidata":"https://www.wikidata.org/wiki/Q188504","display_name":"Alternative medicine","level":2,"score":0.0}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.2147/tacg.s261781","doi":"https://doi.org/10.2147/tacg.s261781","is_oa":true,"landing_page_url":"https://doi.org/10.2147/tacg.s261781","pdf_url":null,"source":{"id":"https://openalex.org/S2764354353","display_name":"The Application of Clinical Genetics","issn_l":"1178-704X","issn":["1178-704X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","norway-1","oarl","poland-200","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320348","host_organization_name":"Dove Medical Press","host_organization_lineage":["https://openalex.org/P4310320348","https://openalex.org/P4310320547"],"host_organization_lineage_names":["Dove Medical Press","Taylor & Francis"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Application of Clinical Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:7459142","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC7459142/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC7459142/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":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Appl Clin Genet","raw_type":"Text"},{"id":"pmid:32943903","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32943903","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":"The application of clinical genetics","raw_type":"Case Reports"},{"id":"pmh:oai:doaj.org/article:0f801a6b1af64b209e73711c066fc311","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/0f801a6b1af64b209e73711c066fc311","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"The Application of Clinical Genetics, Vol Volume 13, Pp 151-157 (2020)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.2147/tacg.s261781","doi":"https://doi.org/10.2147/tacg.s261781","is_oa":true,"landing_page_url":"https://doi.org/10.2147/tacg.s261781","pdf_url":null,"source":{"id":"https://openalex.org/S2764354353","display_name":"The Application of Clinical Genetics","issn_l":"1178-704X","issn":["1178-704X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","norway-1","oarl","poland-200","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320348","host_organization_name":"Dove Medical Press","host_organization_lineage":["https://openalex.org/P4310320348","https://openalex.org/P4310320547"],"host_organization_lineage_names":["Dove Medical Press","Taylor & Francis"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Application of Clinical Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9763000011444092}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320324157","display_name":"Semnan University","ror":"https://ror.org/029gksw03"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3080947367.pdf","grobid_xml":"https://content.openalex.org/works/W3080947367.grobid-xml"},"referenced_works_count":43,"referenced_works":["https://openalex.org/W1970413157","https://openalex.org/W1979415542","https://openalex.org/W1984068087","https://openalex.org/W1992641408","https://openalex.org/W1996593977","https://openalex.org/W2001809022","https://openalex.org/W2023757802","https://openalex.org/W2029648614","https://openalex.org/W2038729808","https://openalex.org/W2087725739","https://openalex.org/W2103441770","https://openalex.org/W2119180969","https://openalex.org/W2126144698","https://openalex.org/W2126697426","https://openalex.org/W2143461976","https://openalex.org/W2146481951","https://openalex.org/W2154866190","https://openalex.org/W2191985091","https://openalex.org/W2195052748","https://openalex.org/W2279265501","https://openalex.org/W2398466157","https://openalex.org/W2442224165","https://openalex.org/W2605353601","https://openalex.org/W2622430872","https://openalex.org/W2768512855","https://openalex.org/W2787586915","https://openalex.org/W2790799309","https://openalex.org/W2795919070","https://openalex.org/W2810926536","https://openalex.org/W2888066901","https://openalex.org/W2888166081","https://openalex.org/W2899528311","https://openalex.org/W2905452503","https://openalex.org/W2905573304","https://openalex.org/W2914095857","https://openalex.org/W2924524501","https://openalex.org/W2944720959","https://openalex.org/W2968642682","https://openalex.org/W2970793600","https://openalex.org/W2995433505","https://openalex.org/W3029661147","https://openalex.org/W3031514517","https://openalex.org/W4247053599"],"related_works":["https://openalex.org/W2790799309","https://openalex.org/W2768512855","https://openalex.org/W4384407253","https://openalex.org/W4405262170","https://openalex.org/W4377115561","https://openalex.org/W3040205858","https://openalex.org/W3175319366","https://openalex.org/W2279265501","https://openalex.org/W4285394126","https://openalex.org/W2810926536"],"abstract_inverted_index":{"Abstract:":[0],"Infantile":[1],"hypotonia,":[2],"with":[3,143,173],"psychomotor":[4],"retardation":[5],"and":[6,20,84,102,137,141,180,192,200],"characteristic":[7],"facies":[8],"1":[9],"(IHPRF1),":[10],"is":[11,25,206],"a":[12,38,117,171,201],"rare":[13,57],"disorder":[14],"characterized":[15],"by":[16,27,131],"global":[17,210],"developmental":[18,211],"delay":[19,219],"dysmorphic":[21],"features.":[22],"This":[23,127],"syndrome":[24],"caused":[26],"genetic":[28],"anomalies":[29],"within":[30],"the":[31,49,52,67,71,80,92,110,113,122,135,144,156,166,182,204],"NALCN":[32,123],"gene.":[33],"The":[34,162],"current":[35,163],"report":[36,164],"examines":[37],"9-year-old":[39],"female":[40],"IHPRF1":[41,186],"patient.":[42],"Our":[43],"objective":[44],"was":[45,63,77,129],"to":[46,48,65,90,108],"contribute":[47],"delineation":[50],"of":[51,112,149,159,170,185,190,203],"underlying":[53],"factors":[54,194],"influencing":[55],"this":[56,160,174,196],"condition.":[58],"Whole":[59],"exome":[60],"sequencing":[61,76,133],"(WES)":[62],"utilized":[64],"identify":[66],"disease-causing":[68,157],"mutation":[69,120,128,177],"in":[70,88,121,134],"affected":[72],"individual.":[73],"Subsequently,":[74],"Sanger":[75,132],"performed":[78],"for":[79],"patient,":[81],"her":[82,138],"parents,":[83],"two":[85],"close":[86],"relatives":[87],"order":[89],"confirm":[91],"detected":[93],"mutation.":[94,114,161],"Moreover,":[95,151],"detailed":[96,168],"clinical":[97,183],"examinations":[98],"including":[99],"EEG,":[100],"echocardiography,":[101],"biochemical/physical":[103],"tests":[104],"were":[105],"carried":[106],"out":[107],"elucidate":[109],"effects":[111],"WES":[115],"identified":[116],"homozygous":[118,175],"nonsense":[119,176],"gene":[124],"(c.2563C>T":[125,178],"p.R855X).":[126],"confirmed":[130,155],"patient":[136,172],"family":[139],"members":[140],"segregated":[142],"autosomal":[145],"recessive":[146],"inheritance":[147],"pattern":[148],"IHPRF1.":[150],"genotype-phenotype":[152],"correlation":[153],"analysis":[154],"nature":[158],"provides":[165],"first":[167],"description":[169],"p.R855X)":[179],"expands":[181],"spectrum":[184],"disease.":[187],"Possible":[188],"influences":[189],"sex":[191],"other":[193],"on":[195],"disease":[197],"are":[198],"discussed":[199],"review":[202],"literature":[205],"also":[207],"provided.":[208],"Keywords:":[209],"delay,":[212],"dysmorphism,":[213],"intellectual":[214],"disability,":[215],"motor":[216],"retardation,":[217],"cognitive":[218]},"counts_by_year":[{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":3}],"updated_date":"2026-11-11T12:16:26.678958","created_date":"2020-09-01T00:00:00"}
