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@article{1115831,
author = {Ezgu, F. S. and Krejčí, Pavel and Li, S. and de Sousa, Carlos and Graham, JM and Hansmann, I. and He, W. and Porpora, K. and Wand, Dorothea and Wertelecki, W. and Schneider, A. and Wilcox, William R.},
article_location = {Hoboken},
article_number = {1},
doi = {http://dx.doi.org/10.1111/cge.12230},
keywords = {BIP-associated protein; endoplasmic reticulum stress; Marinesco-Sjogren Syndrome; SIL1},
language = {eng},
issn = {0009-9163},
journal = {Clinical Genetics},
title = {Phenotype-genotype correlations in patients with Marinesco-Sjogren syndrome},
url = {http://onlinelibrary.wiley.com/doi/10.1111/cge.12230/pdf},
volume = {86},
year = {2014}
}
TY - JOUR
ID - 1115831
AU - Ezgu, F. S. - Krejčí, Pavel - Li, S. - de Sousa, Carlos - Graham, JM - Hansmann, I. - He, W. - Porpora, K. - Wand, Dorothea - Wertelecki, W. - Schneider, A. - Wilcox, William R.
PY - 2014
TI - Phenotype-genotype correlations in patients with Marinesco-Sjogren syndrome
JF - Clinical Genetics
VL - 86
IS - 1
SP - 74-84
EP - 74-84
PB - Wiley-Blackwell
SN - 00099163
KW - BIP-associated protein
KW - endoplasmic reticulum stress
KW - Marinesco-Sjogren Syndrome
KW - SIL1
UR - http://onlinelibrary.wiley.com/doi/10.1111/cge.12230/pdf
L2 - http://onlinelibrary.wiley.com/doi/10.1111/cge.12230/pdf
N2 - 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. 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.
ER -
EZGU, F. S., Pavel KREJČÍ, S. LI, Carlos DE SOUSA, JM GRAHAM, I. HANSMANN, W. HE, K. PORPORA, Dorothea WAND, W. WERTELECKI, A. SCHNEIDER a William R. WILCOX. Phenotype-genotype correlations in patients with Marinesco-Sjogren syndrome. \textit{Clinical Genetics}. Hoboken: Wiley-Blackwell, 2014, roč.~86, č.~1, s.~74-84. ISSN~0009-9163. Dostupné z: https://dx.doi.org/10.1111/cge.12230.
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