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Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.
- Source :
-
Clinical genetics [Clin Genet] 2014 Jul; Vol. 86 (1), pp. 74-84. Date of Electronic Publication: 2013 Jul 30. - Publication Year :
- 2014
-
Abstract
- Marinesco-Sjögren syndrome (MSS; MIM 248800) is an autosomal recessive disorder characterized by congenital cerebellar ataxia, early cataracts, developmental delay, myopathy and short stature. Alterations in the gene SIL1 cause MSS in some patients with typical findings. In this study, molecular investigations including sequencing of the SIL1 gene, western blotting and microscopic investigations in fibroblast cultures were carried out in a cohort of 15 patients from 14 unrelated families, including the large, inbred family reported by Superneau et al., having the clinical features of MSS to provide insights into the pathophysiology of the disorder. A total of seven different mutations were found in eight of the patients from seven families. The mutations caused loss of the BIP-associated protein (BAP) protein in four patients by western blot. Novel clinical features such as dental abnormalities, iris coloboma, eczema and hormonal abnormalities were noticed in some patients, but there was no clear way to distinguish those with and without SIL1 mutations. Cultured fibroblasts contained numerous cytoplasmic inclusion bodies, similar to those identified in the brain of the whoozy mouse in five unrelated patients, three with and two without SIL1 mutations, suggesting some SIL1 negative patients share a common cellular pathogenesis with those who are SIL1 positive.<br /> (© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Subjects :
- Base Sequence
Blotting, Western
Child, Preschool
DNA Primers genetics
Female
Genotype
Humans
Infant
Male
Microscopy, Electron, Transmission
Molecular Sequence Data
Mutation genetics
Sequence Analysis, DNA
Guanine Nucleotide Exchange Factors genetics
Phenotype
Spinocerebellar Degenerations genetics
Spinocerebellar Degenerations physiopathology
Subjects
Details
- Language :
- English
- ISSN :
- 1399-0004
- Volume :
- 86
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Clinical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 23829326
- Full Text :
- https://doi.org/10.1111/cge.12230