Phenotype-genotype correlations in patients with
Marinesco-Sjogren syndrome

J 2014

Phenotype-genotype correlations in patients with Marinesco-Sjogren syndrome

EZGU, F. S., Pavel KREJČÍ, S. LI, Carlos DE SOUSA, JM GRAHAM et. al.

Základní údaje

Originální název

Phenotype-genotype correlations in patients with Marinesco-Sjogren syndrome

Autoři

EZGU, F. S. (840 Spojené státy), Pavel KREJČÍ (203 Česká republika, domácí), S. LI (840 Spojené státy), Carlos DE SOUSA (826 Velká Británie a Severní Irsko), JM GRAHAM (840 Spojené státy), I. HANSMANN (276 Německo), W. HE (840 Spojené státy), K. PORPORA (840 Spojené státy), Dorothea WAND (276 Německo), W. WERTELECKI (840 Spojené státy), A. SCHNEIDER (840 Spojené státy) a William R. WILCOX (840 Spojené státy)

Vydání

Clinical Genetics, Hoboken, Wiley-Blackwell, 2014, 0009-9163

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30105 Physiology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

fulltext

Impakt faktor

Impact factor: 3.931

Kód RIV

RIV/00216224:14310/14:00080570

Organizační jednotka

Přírodovědecká fakulta

DOI

http://dx.doi.org/10.1111/cge.12230

UT WoS

000337538900011

Klíčová slova anglicky

BIP-associated protein; endoplasmic reticulum stress; Marinesco-Sjogren Syndrome; SIL1

Štítky

AKR, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 21. 10. 2019 07:22, Mgr. Marie Šípková, DiS.

Anotace

V originále

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.

Návaznosti

GAP305/11/0752, projekt VaV

Název: Molekulární základy FGFR3 signalingu v kostní dysplázii

Investor: Grantová agentura ČR, Molekulární základy FGFR3 signalingu v kostní dysplázii

LH12004, projekt VaV

Název: FGFR3-specifický adaptérom a jeho role v patologické FGFR3 signalizaci v nemoci (Akronym: AMVIS-FGFR3)

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, FGFR3-specifický adaptérom a jeho role v patologické FGFR3 signalizaci v nemoci

MSM0021622430, záměr

Název: Funkční a molekulární charakteristiky nádorových a normálních kmenových buněk - identifikace cílů pro nová terapeutika a terapeutické strategie

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Funkční a molekulární charakteristiky nádorových a normálních kmenových buněk - identifikace cílů pro nová terapeutika a terapeutické strategie

Citovat

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. 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.

@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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