{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T06:05:44Z","timestamp":1784873144508,"version":"3.55.0"},"reference-count":24,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T00:00:00Z","timestamp":1751846400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T00:00:00Z","timestamp":1751846400000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus callosum, and autopsies done on both showed similar abnormalities, including facial dysmorphism, osteopetrosis, and neuropathologic findings consistent with NAD. Trio exome sequencing identified a homozygous c.283 C&gt;T; p.(Arg95Ter) variant in exon 3 of the\n                    <jats:italic>BORCS5<\/jats:italic>\n                    gene (NM_058169.4) in each of the couple's fetuses, and each of the parents was heterozygous for this variant. Interestingly, one of the affected fetuses was also homozygous for a biallelic missense VUS variant in\n                    <jats:italic>SCYL2<\/jats:italic>\n                    (NM_017988.5) c.902G&gt;A; p. Arg301His, heterozygous in parents. However, the autopsy findings on the two sibs were identical, raising the possibility that this\n                    <jats:italic>SCYL2<\/jats:italic>\n                    homozygote variant did not contribute to the phenotype.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64164","type":"journal-article","created":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T06:39:08Z","timestamp":1751870348000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in\n                    <scp>BORCS5<\/scp>"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3304-4854","authenticated-orcid":false,"given":"Yael","family":"Fisher","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orli","family":"Greenberg","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8647-6637","authenticated-orcid":false,"given":"Patrick","family":"Shannon","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Staines","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bobbi","family":"McGivern","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie Patricia","family":"Napier","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1944-7294","authenticated-orcid":false,"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"},{"name":"Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,7,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.33.4.437"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-016-0208-3"},{"issue":"5","key":"e_1_2_10_4_1","first-page":"298","article-title":"Prenatal Axonal Dystrophy and Osteopetrosis","volume":"95","author":"Fitch N.","year":"1973","journal-title":"Archives of Pathology"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.04.001"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu218"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2017.08.3260"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00690531"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2011.03955.x"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410020506"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.105.3.1253"},{"key":"e_1_2_10_12_1","article-title":"Pathogenic Variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction","volume":"7","author":"Mencacci N. 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