Phenotype-genotype correlations in patients with Marinesco-Sjogren syndrome

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Title in English Phenotype Genotype Correlations In Patients With The Marinesco-Sjögren Syndrome: Novel Findings and Review of The Literature
Authors

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.

Year of publication 2014
Type Article in Periodical
Magazine / Source Clinical Genetics
MU Faculty or unit

Faculty of Science

Citation
Web fulltext
Doi http://dx.doi.org/10.1111/cge.12230
Field Physiology
Keywords BIP-associated protein; endoplasmic reticulum stress; Marinesco-Sjogren Syndrome; SIL1
Description 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.
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