SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

@article{Krieger2013SIL1MA,
  title={SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.},
  author={M. Krieger and A. Roos and C. Stendel and K. Claeys and F. M. Sonmez and M. Baudis and P. Bauer and A. Bornemann and C. de Goede and A. Dufke and R. Finkel and H. Goebel and M. H{\"a}ussler and H. Kingston and J. Kirschner and L. Medne and P. Muschke and F. Rivier and S. Rudnik-Sch{\"o}neborn and S. Spengler and Francesca Inzana and F. Stanzial and F. Benedicenti and M. Synofzik and A. L{\'i}a Taratuto and L. Pirra and S. Tay and H. Topaloglu and G. Uyanik and D. Wand and Denise Williams and K. Zerres and J. Weis and J. Senderek},
  journal={Brain : a journal of neurology},
  year={2013},
  volume={136 Pt 12},
  pages={
          3634-44
        }
}
Marinesco-Sjögren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum resident co-chaperone, were identified as the main cause of Marinesco-Sjögren syndrome. Here we describe the results of SIL1 mutation analysis in 62 patients presenting with early-onset ataxia, cataracts… Expand
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Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
TLDR
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Myopathy in Marinesco–Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology
TLDR
Woozy muscle is identified as a faithful phenocopy of the MSS myopathy and a link between two well-established disease mechanisms in skeletal muscle, dysfunction of chaperones and nuclear envelope pathology is provided. Expand
Novel Ocular Features in a Child with Marinesco-Sjögren Syndrome: Case Report and Literature Review
To report novel ocular findings in unique Marinesco-Sjögren syndrome (early-onset cataracts, cerebellar ataxia, and a progressive myopathy), review literature, and discuss causes of vision decreaseExpand
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References

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SIL1 and SARA2 mutations in Marinesco‐Sjögren and chylomicron retention diseases
TLDR
The SARA2 gene belonging to the Sar1-adenosine diphosphate-ribosylation factor family of small guanosine triphosphatases, which governs the intracellular trafficking of proteins in coat protein-coated vesicles is investigated. Expand
Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome
TLDR
Four novel mutations in SIL1 are reported, including the first missense substitution p.Leu457Pro described in MSS, which implies that aggregation of mutant proteins may contribute to MSS pathogenesis. Expand
A novel mutation in BAP/SIL1 gene causes Marinesco–Sjögren syndrome in an extended pedigree
TLDR
It is predicted that the loss of function of the gene is the cause of MSS phenotype, and genomic DNA from the peripheral blood of 12 individuals of this pedigree was used for the MSS linkage study and BAP/ SIL1 sequence analysis. Expand
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
TLDR
Identification of SIL1 mutations implicates Marinesco-Sjögren syndrome as a disease of endoplasmic reticulum dysfunction and suggests a role for this organelle in multisystem disorders. Expand
Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco–Sjögren syndrome
TLDR
This study identified two novel mutations in a Japanese pedigree with MSS, one of which was an intragenic deletion not detected using the PCR-direct sequencing protocol, and identified an approximately 58 kb deletion in exon 6 in the patients and mother. Expand
Skeletal findings in Marinesco-Sjögren syndrome
TLDR
The appearance and frequency of skeletal abnormalities associated with the Marinesco-Sjögren syndrome of cerebellar ataxia, congenital cataracts, mental and physical retardation and myopathy are described and a constellation of cranial and extracranial skeletal abnormalities can lead the radiologist or orthopaedist to suggest the diagnosis. Expand
Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco–Sjögren syndrome
TLDR
The entire SIL1-coding region is sequenced in 3 unrelated Japanese patients with classical MSS and a novel homozygous frameshift insertion mutation, 936_937insG, is identified in exon 9 in all 3 patients. Expand
Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31
TLDR
The genetic basis of Marinesco-Sjogren syndrome is investigated in consanguineous Pakistani families with congenital cataract and muscular dystrophy and two novel missense mutations are reported. Expand
Marinesco‐Sjögren Syndrome: Clinical and Magnetic Resonance Imaging Features in Three Children
TLDR
Clinical and MRI features of a girl and two boys, aged 9, 17 and 19 years, respectively, with Marinesco‐Sjögren syndrome showed a very small cerebellar vermis in all three patients, various supratentorial abnormalities, an apparcntly small anterior pituitary gland in two and the absence of a posterior pituitarian gland in allThree. Expand
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
We identified the gene underlying Marinesco-Sjögren syndrome, which is characterized by cerebellar ataxia, progressive myopathy and cataracts. We identified four disease-associated, predictedExpand
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