0436676 - BFÚ 2015 RIV US eng J - Journal Article
Ezgu, F. - Krejčí, Pavel - Li, S. - de Sousa, P. … Total 12 authors
Phenotype-genotype correlations in patients with Marinesco-Sjogren syndrome.
Clinical Genetics. Roč. 86, č. 1 (2014), s. 74-84. ISSN 0009-9163. E-ISSN 1399-0004
Institutional support: RVO:68081707
Keywords : BIP-associated protein * endoplasmic reticulum stress * Marinesco-Sjogren Syndrome
Subject RIV: BO - Biophysics
Impact factor: 3.931, year: 2014 ; AIS: 1.36, rok: 2014
DOI: https://doi.org/10.1111/cge.12230

Marinesco-Sjogren 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.
Permanent Link: http://hdl.handle.net/11104/0240395