{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T02:12:53Z","timestamp":1758161573860,"version":"3.44.0"},"reference-count":21,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A Silver syndrome is a rare autosomal dominant spastic paraparesis in which spasticity of the lower limbs is accompanied by amyotrophy of the small hand muscles. The causative gene is the Berardinelli-Seip congenital lipodystrophy 2 (BSCL2), which is related to a spectrum of neurological phenotypes. In the current study, we presented a 14-year-old male with a slowly progressive spastic paraparesis with urinary incontinence that later on exhibited atrophy and weakness in the thenar and dorsal interosseous muscles. Magnetic resonance imaging (MRI) revealed discrete atrophy of the corpus callosum isthmus and an extended next-generation sequencing panel identified a de novo heterozygous mutation in BSCL2 gene, c.269C\u2009&gt;\u2009T p.(S90L). Various clinical expression and incomplete penetrance of BSCL2 gene mutations complicate the establishment of a genetic etiology for these cases. Therefore, Silver syndrome should be included in the differential diagnosis if the initial presentation is a spastic paraparesis by urinary involvement with childhood-onset, even with MRI atypical findings. This report described the first Iberian Silver syndrome case carrying a de novo c.269C\u2009&gt;\u2009T p. (S90L) BSCL2 gene mutation.<\/jats:p>","DOI":"10.1055\/s-0040-1713768","type":"journal-article","created":{"date-parts":[[2020,7,10]],"date-time":"2020-07-10T07:10:30Z","timestamp":1594365030000},"page":"253-258","source":"Crossref","is-referenced-by-count":2,"title":["A De Novo BSCL2 Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement"],"prefix":"10.53391","volume":"10","author":[{"given":"Joana","family":"Ramos-Lopes","sequence":"additional","affiliation":[{"name":"Department of Neurology, Centro Hospitalar e Universit\u00e1rio de Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joana","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Child Development Centre, Pediatric Hospital, Centro Hospitalar e Universit\u00e1rio de Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1rio","family":"La\u00e7o","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Pediatric Hospital, Centro Hospitalar e Universit\u00e1rio de Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Alves","sequence":"additional","affiliation":[{"name":"Orthopedics Department, Pediatric Hospital, Centro Hospitalar e Universit\u00e1rio de Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anabela","family":"Matos","sequence":"additional","affiliation":[{"name":"Department of Neurology, Centro Hospitalar e Universit\u00e1rio de Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e1rmen","family":"Costa","sequence":"additional","affiliation":[{"name":"Child Development Centre, Pediatric Hospital, Centro Hospitalar e Universit\u00e1rio de Coimbra, 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