| Autor: |
Brugnoni R; Neuroimmunology and Neuromuscular Diseases Unit, Department of Clinical Research and Development, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Marelli D; Child Neurology Unit, Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Department of Biomedical and Clinical Sciences, Postgraduate School of Child Neuropsychiatry, University of Milan, 20157 Milan, Italy., Iacomino N; Neuroimmunology and Neuromuscular Diseases Unit, Department of Clinical Research and Development, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Canioni E; Neuroimmunology and Neuromuscular Diseases Unit, Department of Clinical Research and Development, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Cappelletti C; Neuroimmunology and Neuromuscular Diseases Unit, Department of Clinical Research and Development, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Maggi L; Neuroimmunology and Neuromuscular Diseases Unit, Department of Clinical Research and Development, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Ardissone A; Child Neurology Unit, Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. |
| Abstrakt: |
Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive musculoskeletal disorder caused by various mutations in the HSPG2 gene encoding the protein perlecan, a major component of basement membranes. We report a novel splice mutation HSPG2 (NM_005529.7):c.3888 + 1G > A and a known point mutation HSPG2 (NM_005529.7):c.8464G > A, leading to the skipping of exon 31 and 64 in mRNA, respectively, in a Moroccan child with clinical features suggestive of SJS1 and carrying two compound heterozygous mutations in the HSPG2 gene detected by next-generation sequencing. Both parents harboured one mutation. Real-time and immunostaining analysis revealed down-regulation of the HSPG2 gene and a mild reduction in the protein in the muscle, respectively. We reviewed all genetically characterized SJS1 cases reported in literature, confirming the clinical hallmarks and unspecific instrumental data in our case. The genotype-phenotype correlation is very challenging in SJS1. Therapy is mainly focused on symptom management and several drugs have been administered with different efficacy.Here, we report the second case with spontaneous improvement. |
