{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T15:34:05Z","timestamp":1773329645899,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2025,5,12]],"date-time":"2025-05-12T00:00:00Z","timestamp":1747008000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Pathogenic variants in <jats:italic>IGHMBP2<\/jats:italic> have been associated with spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Autosomal Recessive Charcot\u2013Marie\u2013Tooth disease type 2S (AR\u2010CMT2S), as well as a relatively wide spectrum of rare, atypical phenotypes. We describe clinical and molecular features of five patients who have diverse clinical findings associated with known and novel <jats:italic>IGHMBP2<\/jats:italic> pathogenic variants. Genotype\u2013phenotype correlations are evident, highlighting the association of specific variants with SMARD1 or AR\u2010CMT2S. This study expands the spectrum of the <jats:italic>IGHMBP2<\/jats:italic>\u2010related disease and highlights the necessity to study diverse populations to enhance diagnostic accuracy and refine genotype\u2013phenotype correlations.<\/jats:p>","DOI":"10.1002\/ajmg.a.64116","type":"journal-article","created":{"date-parts":[[2025,5,12]],"date-time":"2025-05-12T05:59:32Z","timestamp":1747029572000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical and Genetic Landscape of <scp><i>IGHMBP2<\/i><\/scp>\u2010Related Disorders: From Novel Variants to Phenotypic Insights"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1924-6695","authenticated-orcid":false,"given":"Tinatin","family":"Tkemaladze","sequence":"first","affiliation":[{"name":"Department of Molecular and Medical Genetics Tbilisi State Medical University  Tbilisi Georgia"},{"name":"Givi Zhvania Pediatric University Clinic, Tbilisi State Medical University  Tbilisi Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kakha","family":"Bregvadze","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics Tbilisi State Medical University  Tbilisi Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luka","family":"Abashishvili","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics Tbilisi State Medical University  Tbilisi Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gocha","family":"Chikvinidze","sequence":"additional","affiliation":[{"name":"Department of Neurology I.Tsitsishvili Children's New Clinic  Tbilisi Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelica Maria","family":"Delgado Vega","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Rare Diseases Karolinska Institutet  Stockholm Stockholm County Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4613-7822","authenticated-orcid":false,"given":"Fizza","family":"Akbar","sequence":"additional","affiliation":[{"name":"Division of Women &amp; Child Health Aga Khan University  Karachi Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Khan","sequence":"additional","affiliation":[{"name":"Section of Neurology, Department of Medicine Aga Khan University  Karachi Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2039-5233","authenticated-orcid":false,"given":"Salman","family":"Kirmani","sequence":"additional","affiliation":[{"name":"Division of Women &amp; Child Health Aga Khan University  Karachi Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,5,12]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63332"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.10.002"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng703"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20525"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2013.11.006"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12633"},{"key":"e_1_2_12_8_1","unstructured":"MARRVEL. n.d.\u201cMarrvel.\u201dhttps:\/\/marrvel.org\/human\/gene\/3508."},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddac283"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9241"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0172346"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23179913"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.14874"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001220"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2023.1252075"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.164608"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.15024"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2017.15"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.64116","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,11]],"date-time":"2025-08-11T09:19:19Z","timestamp":1754903959000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.64116"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,12]]},"references-count":18,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1002\/ajmg.a.64116"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.64116","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,12]]},"assertion":[{"value":"2024-08-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e64116"}}