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Article

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.

European journal of human genetics : EJHG - 1 Aug 2008

Anttonen Anna-Kaisa, Siintola Eija, Tranebjaerg Lisbeth, Iwata Nobue K, Bijlsma Emilia K, Meguro Hiroyuki, Ichikawa Yaeko, Goto Jun, Kopra Outi, Lehesjoki Anna-Elina

Abstract excerpt

Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessively inherited neurodegenerative disorder characterized by cerebellar ataxia, cataracts, mental retardation, and progressive myopathy. Recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum (ER) resident cochaperone, were identified as a major cause of MSS. We here report four novel mutations in SIL1, including the first missense...

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Source

Identifiers

PMID: 18285827
DOI: 10.1038/ejhg.2008.22

Genes

SIL1
HSPA5
HYOU1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.PMID 18285827Read ↗

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.Semantic proximity Read ↗

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Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.Semantic proximity Read ↗

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