Ask about this productRelated genes to: SIL1 antibody
- Gene:
- SIL1 NIH gene
- Name:
- SIL1 nucleotide exchange factor
- Previous symbol:
- MSS
- Synonyms:
- BAP, ULG5
- Chromosome:
- 5q31.2
- Locus Type:
- gene with protein product
- Date approved:
- 2005-09-01
- Date modifiied:
- 2016-10-05
Related products to: SIL1 antibody
Related articles to: SIL1 antibody
- : Marinesco-Sjögren syndrome (MSS, MIM #248800) is a condition that is characterized by biallelic pathogenic variants in the gene. Manifestations include congenital cataracts, cerebellar ataxia, progressive muscle weakness and skeletal deformities, delay in psychomotor development, hypergonadotropic hypogonadism and short stature. Muscular involvement has been extensively discussed as a clinical finding but there is little literature on muscle imaging. The aim of this paper is to systematically review muscular imaging techniques in MSS reported in the literature, and to describe the clinical and imaging features of two pediatric subjects with MSS. : Having searched through three electronic databases (PubMed, Scopus and Web of Science) two articles, written in English, describing twelve patients with MSS mutations on whom muscle MRI imaging was performed, were selected. In addition, two paediatric cases (brother and sister) with Marinesco-Sjögren syndrome (MSS) and MRI muscle findings were added. Data on type of study, cohort characteristics, type of mutation, neuromuscular signs and symptoms, imaging assessment, electrophysiological findings, biopsies, CNS symptoms, ocular signs and muscle imaging data were collected and stored in a table. : Of the 239 articles examined, only 3 used a muscle imaging technique to describe myopathy in MSS; one used a CT while another a muscle MRI. All 14 patients showed signs of fatty replacement. The infiltration mainly affected the lower limbs, but involvement in the upper limb was described in some adult patients. : Performing a muscle MRI in MSS can lead to the early identification of muscle involvement and may be a useful biomarker to monitor disease progression. - Source: PubMed
Publication date: 2026/03/02
Buchignani BiancaVega GiadaPasquariello RosaMarinella GemmaTosetti MichelaAstrea GujaBattini Roberta - The congenital dysferlinopathy phenotype is the rarest and earliest manifestation variant, described in two closely related Spanish and Turkish families, with a homozygous pathogenic frameshift variant in exon 26 of the gene. This article presents a 1.6-year-old patient from a consanguineous Uzbek family with a clinical diagnosis of congenital dysferlinopathy phenotype and MarinescoSjögren syndrome with transient postnatal hypotonia, motor development delay, muscle weakness in the flexors of the neck and proximal limbs, convergent strabismus, cerebellar truncal ataxia, minimal intention tremor of the upper limbs, a slight increase in the levels of creatinine phosphokinase (CK) to 353 U/L (2.4×N) and that of myoglobin to 40 µg/mL (2×N). Magnetic resonance imaging (MRI) revealed pronounced edematous changes in the gastrocnemius muscle on short tau inversion recovery (STIR). MRI signs of minimal fat replacement and hypotrophy were noted in the medial and posterior thigh and gastrocnemius muscles. MRI of the head revealed hypoplasia of the vermis and cerebellar hemispheres. Whole-exome sequencing revealed compound heterozygous variants: NM_001130987.2:c.1000 C > T (p.(Arg334Trp)) and NM_001130987.2:c.518 C > T (p.(Thr173Met)), and a previously described homozygous variant NM_022464.5:c.178G > T (p.(Glu60Ter)). Histopathological examination revealed minimal signs of myopathy and dysferlin in only 1% of the muscle fibers. At the ultrastructural level, signs of dysferlinopathy and Marinesco–Sjögren syndrome were detected. This clinical case is an example of the cosegregation of two diseases that mutually potentiate damage to skeletal muscles. - Source: PubMed
Publication date: 2026/03/05
Bardakov Sergey NEmelin Alexey MNikitin Sergey SSuslov Vasiliy МDmitrochenko Ivan VKovalevskaya Irina SKorzun Polina RYakovlev Ivan AIsaev Аrtur АDeev Roman V - Chinese indigenous goat breeds exhibit rich genetic diversity and a long history of domestication, endowing these native populations with superior traits in environmental adaptation, forage utilization, and disease resistance. The identification of selection signatures through comparative genomic analysis could facilitate the understanding of breed differentiation and enables the discovery of functionally important genes. Using whole-genome sequencing data (23.87× Average coverage), we assessed genetic variation, population stratification, runs of homozygosity (ROH), and selection signatures in two Chinese goat breeds: Inner Mongolia cashmere goats (IMCGs, = 200) and Zhongwei goats (ZWGs, = 200). - Source: PubMed
Publication date: 2026/01/20
Han MingxuanRong YoujunWang XinleAo XiaofangShang FangzhengWang ZhiyingSu RuiWang RuijunLiu YongbinZhang Yanjun - Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessive disorder characterized by cerebellar ataxia, congenital cataracts, developmental delay, hypotonia, and progressive myopathy. Most reported cases are linked to pathogenic variants in , a gene encoding a co-chaperone essential for protein folding in the endoplasmic reticulum. Here, we present a comprehensive case study of a Turkish pediatric patient diagnosed with MSS, supported by genetic, bioinformatic, and structural modeling analyses. Whole-exome sequencing revealed a homozygous splice-site variant ( c.453+1G>T), confirmed by Sanger sequencing and segregation analysis. In silico annotation using Genomize, InterVar, Franklin, VarSome, ClinVar, OMIM, and PubMed classified the variant as pathogenic according to ACMG guidelines. Structural modeling by Phyre2 and I-TASSER demonstrated that the variant abolishes the intron 5 donor site, leading to truncation of the wild-type 461-amino-acid protein into a shortened ~189-amino-acid polypeptide. This truncation results in the loss of critical Armadillo (ARM) repeats required for HSPA5 interaction, explaining the observed instability and impaired chaperone function. Clinically, the patient presented with congenital cataracts, ataxia, developmental delay, and progressive muscle weakness, consistent with previously reported MSS cases. Comparison with the literature confirmed that splice-site variants frequently correlate with severe phenotypes, including early-onset ataxia and cataracts. This report highlights the importance of integrating genomic, structural, and clinical data to better understand genotype-phenotype correlations in MSS. Our findings expand the mutational spectrum of , reinforce the role of splicing defects in disease pathogenesis, and emphasize the necessity of comprehensive molecular diagnostics for rare neurogenetic syndromes. - Source: PubMed
Publication date: 2025/12/02
Aslan Elif SibelEslamkhah SajjadAkcali NerminYavas CuneydKarcioglu Batur LutfiyeSengenc EsmaYüksel Adnan - Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessive neuromuscular disorder marked by ataxia, muscle weakness, cataracts, and often intellectual and skeletal abnormalities. It is commonly caused by loss-of-function variants in the gene, which impair binding immunoglobulin protein (BiP) function, leading to protein misfolding and activation of the unfolded protein response. In a 2-year-old patient with typical MSS symptoms, we identified a previously unreported c.1024G>A (p.E342K) variant in via whole-exome sequencing. The pathogenicity of this Sil1 variant was supported by evidence of structural changes revealed through in silico predictions, circular dichroism, and native gel electrophoresis. Patient-derived fibroblasts exhibited reduced Sil1 protein levels, likely due to misfolding and degradation, which was partially rescued by proteasome inhibition. Proteomics revealed a profile similar to known MSS cases and a distinctive MSS transcriptional signature. Ultrastructural analysis confirmed typical MSS features, such as autophagic vacuoles and lipid droplets. Although the p.E342K phenotype appears milder than the reference pathogenic variant R111X, our findings support the reclassification of this novel variant as pathogenic, in accordance with the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) 2015 guidelines and the refinements proposed by the Clinical Genome Resource Sequence Variant Interpretation (ClinGen SVI) recommendations. Furthermore, the overall evidence also provides important insights into the genotype-phenotype correlation and the underlying pathogenic mechanism of the p.E342K variant. - Source: PubMed
Publication date: 2025/11/22
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