{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T15:55:53Z","timestamp":1787500553883,"version":"build-2736575974"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,8,9]],"date-time":"2018-08-09T00:00:00Z","timestamp":1533772800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The Legacy Heritage Bio-Medical program of the Israel Science Foundation and the National Knowledge Center for Rare \/ Orphan Diseases sponsored by the Israel ministry of Science, Technology and Space.","award":["1798\/16"],"award-info":[{"award-number":["1798\/16"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>\n                    Four siblings of consanguineous Bedouin kindred presented at infancy with an autosomal recessive syndrome of congenital microcephaly, facial dysmorphism, strabismus, developmental delay and ataxia with positive pyramidal signs. Toward the end of their first decade, they developed areflexia, multiple cranial neuropathies and severe polyneuropathy with progressive muscle weakness, affecting proximal and distal extremities. Physical assessment exhibited kyphoscoliosis, bilateral syndactyly and distal muscle wasting with drop\u2010foot and pes cavus. Magnetic resonance imaging (MRI) showed profound cerebellar atrophy with highly unique findings at the pontine and mesencephalic levels, previously described as \u201cfork and bracket\u201d signs. Genome\u2010wide linkage analysis identified a single ~1.5\u2009Mbp disease\u2010associated locus on chromosome 22q13.33. Whole exome sequencing identified a single novel homozygous deleterious splice\u2010site mutation within this locus in SET binding factor 1 (\n                    <jats:italic>SBF1<\/jats:italic>\n                    ).\n                    <jats:italic>SBF1<\/jats:italic>\n                    missense mutations were shown to underlie Charcot\u2010Marie\u2010Tooth (CMT) type 4B3 disease, a rare autosomal recessive subtype of CMT4. The novel\n                    <jats:italic>SBF1<\/jats:italic>\n                    null mutation highlights distinct severe phenotypic manifestations, broadening the clinical spectrum of\n                    <jats:italic>SBF1<\/jats:italic>\n                    \u2010related neuropathies: cerebellar and pyramidal signs evident in the first months of life with peripheral polyneuropathy emerging only toward the end of the first decade, together with unique MRI findings.\n                  <\/jats:p>","DOI":"10.1111\/cge.13419","type":"journal-article","created":{"date-parts":[[2018,7,24]],"date-time":"2018-07-24T05:54:23Z","timestamp":1532411663000},"page":"473-479","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Novel\n                    <i>SBF1<\/i>\n                    splice\u2010site null mutation broadens the clinical spectrum of Charcot\u2010Marie\u2010Tooth type 4B3 disease"],"prefix":"10.1111","volume":"94","author":[{"given":"H.","family":"Flusser","sequence":"first","affiliation":[{"name":"Zussman Child Development Center, Division of Pediatrics, Soroka Medical Center Ben\u2010Gurion University of the Negev  Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1598-989X","authenticated-orcid":false,"given":"D.","family":"Halperin","sequence":"additional","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev Ben\u2010Gurion University of the Negev  Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Kadir","sequence":"additional","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev Ben\u2010Gurion University of the Negev  Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.","family":"Shorer","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Division of Pediatrics, Soroka Medical Center Ben\u2010Gurion University of the Negev  Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Shelef","sequence":"additional","affiliation":[{"name":"Department of Imaging, Soroka Medical Center Ben\u2010Gurion University of the Negev  Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.S.","family":"Birk","sequence":"additional","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev Ben\u2010Gurion University of the Negev  Beer\u2010Sheva Israel"},{"name":"Genetics Institute, Soroka University Medical Center Ben\u2010Gurion University of the Negev  Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,8,9]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"235","article-title":"The genetics of Charcot\u2013Marie\u2013Tooth disease: current trends and future implications for diagnosis and management","volume":"8","author":"Hoyle JC","year":"2015","journal-title":"Appl Clin 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of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot\u2013Marie\u2013Tooth neuropathy type 4B2\/11p15","volume":"12","author":"Senderek J","year":"2003","journal-title":"Hum Mol Genet"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R110.217067"}],"container-title":["Clinical 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