{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T15:57:51Z","timestamp":1785772671092,"version":"3.56.0"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T00:00:00Z","timestamp":1779408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T00:00:00Z","timestamp":1779408000000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Biallelic loss\u2010of\u2010function variants in\n                    <jats:italic>FIG4<\/jats:italic>\n                    are associated with Charcot\u2013Marie\u2013Tooth disease type 4J, a progressive peripheral sensorimotor demyelinating polyneuropathy. Biallelic null\n                    <jats:italic>FIG4<\/jats:italic>\n                    variants cause Yunis\u2010Varon syndrome, a severe neurological disorder characterized by global developmental delay, hypotonia, brain malformations, skeletal defects, dysmorphic facial features, and juvenile lethality. In the past few years, many individuals with combined central and peripheral nervous system disease associated with biallelic\n                    <jats:italic>FIG4<\/jats:italic>\n                    variants have been described. In addition, certain heterozygous\n                    <jats:italic>FIG4<\/jats:italic>\n                    variants are associated with amyotrophic lateral sclerosis. We describe an individual with global developmental delay, hypotonia, cerebral hypomyelination, peripheral hypomyelinating polyneuropathy, frequent fractures, and juvenile ossifying fibroma. The spectrum of clinical presentation of\n                    <jats:italic>FIG4<\/jats:italic>\n                    \u2010related disorders is increasingly being recognized. Our observations expand the phenotypic spectrum of\n                    <jats:italic>FIG4<\/jats:italic>\n                    \u2010related neurological disorders. In addition, we provide an overview of the potential genotype\u2013phenotype correlations of this expanding group of disorders of lysosomal homeostasis.\n                  <\/jats:p>","DOI":"10.1111\/cge.70185","type":"journal-article","created":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T08:15:51Z","timestamp":1779437751000},"page":"363-368","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding Spectrum of\n                    <scp>\n                      <i>FIG4<\/i>\n                    <\/scp>\n                    \u2010Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype\u2013Phenotype Correlations"],"prefix":"10.1111","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5949-6421","authenticated-orcid":false,"given":"Pankaj","family":"Prasun","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Genetics and Metabolism University of Wisconsin\u2010Madison  Madison Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Rasberry","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics and Metabolism University of Wisconsin\u2010Madison  Madison Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,22]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05876"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000209763"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.03.020"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.525"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2020.03.021"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2025.105055"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23720"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13771"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.1008251"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.70037"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.70049"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000241"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.12.010"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.186"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1247\/csf.17003"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms1037"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25198"},{"issue":"6","key":"e_1_2_12_19_1","first-page":"1205","article-title":"Mutations and Phenotype in Isolated Glycerol Kinase Deficiency","volume":"58","author":"Walker A. 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