{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T12:46:09Z","timestamp":1782305169206,"version":"3.54.5"},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T00:00:00Z","timestamp":1781136000000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      This investigation reports on a Shwachman\u2010Diamond syndrome (SDS) case arising from compound heterozygous genetic variations affecting the\n                      <jats:italic>EFL1<\/jats:italic>\n                      locus. A systematic review of published literature was undertaken to compile data on clinical manifestations, management strategies, and prognostic indicators in SDS cases with identified\n                      <jats:italic>EFL1<\/jats:italic>\n                      genetic alterations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The clinical data of a neonatal SDS patient, whole exome sequencing (WES) results, and the pathogenicity of the variants were analyzed. A comprehensive survey of applicable medical literature published up to March 2025 was executed to identify and synthesize the clinical phenotypes associated with this condition.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      WES identified compound heterozygous variants within the patient's\n                      <jats:italic>EFL1<\/jats:italic>\n                      gene: c.2935C&gt;T (p.R979C) and c.3149_3151delCAC (p.P1050del). Bioinformatics analysis indicated these variations were damaging. Seven articles reported a total of 20 cases of this disease, with predominant phenotypes including exocrine pancreatic insufficiency, hematologic abnormalities, and metaphyseal dysplasia. Among the 20 previously reported cases, 16 distinct EFL1 variants were identified, and the current case adds 2 novel variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      SDS caused by\n                      <jats:italic>EFL1<\/jats:italic>\n                      gene defects primarily presents as bone marrow failure, with treatment mainly focused on symptomatic management. We report a neonatal SDS patient with the earliest onset of symptoms. The c.2935C&gt;T and c.3149_3151delCAC compound heterozygous variants reported in this study expand the mutational spectrum of this disease.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70249","type":"journal-article","created":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T05:07:26Z","timestamp":1781240846000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Case Report of Shwachman\u2010Diamond Syndrome Caused by Heterozygous Variants in the\n                    <i>EFL1<\/i>\n                    Gene and Literature Review"],"prefix":"10.1002","volume":"14","author":[{"given":"Xiaoying","family":"Zhou","sequence":"first","affiliation":[{"name":"Central Laboratory of Pediatrics Affiliated Changzhou Children's Hospital of Nantong University  Changzhou People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9017-4511","authenticated-orcid":false,"given":"Hongxin","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neonatology Affiliated Changzhou Children's Hospital of Nantong University  Changzhou People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinyi","family":"Yang","sequence":"additional","affiliation":[{"name":"Central Laboratory of Pediatrics Affiliated Changzhou Children's Hospital of Nantong University  Changzhou People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunli","family":"Wang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Pediatrics Children's Hospital of Nanjing Medical University  Nanjing People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5447-2300","authenticated-orcid":false,"given":"Wenting","family":"Zhang","sequence":"additional","affiliation":[{"name":"Central Laboratory of Pediatrics Affiliated Changzhou Children's Hospital of Nantong University  Changzhou People's Republic of China"},{"name":"Pharmaceutical Research Laboratory, Changzhou Institute of Bronchitis  Changzhou People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,11]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102017\u201012\u2010820308"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1062"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI92876"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.19793"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2011.057489"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.623011"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2021005539"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887\u2010023\u201004324\u20103"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp698"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq559"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1994"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.15594"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2352\u20103026(19)30206\u20106"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2021012724"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100686\u20108"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/s1097\u20102765(01)00403\u20108"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102016\u2010104366"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a003046"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2018893404"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.05.002"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.3112"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2024.04.030"}],"container-title":["Molecular Genetics &amp; 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