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@article{1165536,
author = {Cirak, Sebahattin and Foley, Aileen Reghan and Herrmann, Ralf and Willer, Tobias and Yau, Shu and Stevens, Elizabeth and Torelli, Silvia and Brodd, Lina and Kamynina, Alisa and Vondráček, Petr and Roper, Helen and Longman, Cheryl and Korinthenberg, Rudolf and Marrosu, Gianni and Nuernberg, Peter and Michele, Daniel E and Plagnol, Vincent and Hurles, Matt and Moore, Steven A and Sewry, Caroline A and Campbell, Kevin P and Voit, Thomas and Muntoni, Francesco},
article_location = {OXFORD},
article_number = {Part 1},
doi = {http://dx.doi.org/10.1093/brain/aws312},
keywords = {congenital muscular dystrophy; limb-girdle muscular dystrophy; dystroglycan; laminin; isoprenoid synthase},
language = {eng},
issn = {0006-8950},
journal = {Brain},
title = {ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies},
volume = {136},
year = {2013}
}
TY - JOUR
ID - 1165536
AU - Cirak, Sebahattin - Foley, Aileen Reghan - Herrmann, Ralf - Willer, Tobias - Yau, Shu - Stevens, Elizabeth - Torelli, Silvia - Brodd, Lina - Kamynina, Alisa - Vondráček, Petr - Roper, Helen - Longman, Cheryl - Korinthenberg, Rudolf - Marrosu, Gianni - Nuernberg, Peter - Michele, Daniel E - Plagnol, Vincent - Hurles, Matt - Moore, Steven A - Sewry, Caroline A - Campbell, Kevin P - Voit, Thomas - Muntoni, Francesco
PY - 2013
TI - ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies
JF - Brain
VL - 136
IS - Part 1
SP - 269-281
EP - 269-281
PB - OXFORD UNIV PRESS
SN - 00068950
KW - congenital muscular dystrophy
KW - limb-girdle muscular dystrophy
KW - dystroglycan
KW - laminin
KW - isoprenoid synthase
N2 - Dystroglycanopathies are a clinically and genetically diverse group of recessively inherited conditions ranging from the most severe of the congenital muscular dystrophies, Walker-Warburg syndrome, to mild forms of adult-onset limb-girdle muscular dystrophy. Their hallmark is a reduction in the functional glycosylation of alpha-dystroglycan, which can be detected in muscle biopsies. An important part of this glycosylation is a unique O-mannosylation, essential for the interaction of alpha-dystroglycan with extracellular matrix proteins such as laminin-alpha 2. Mutations in eight genes coding for proteins in the glycosylation pathway are responsible for similar to 50% of dystroglycanopathy cases. Despite multiple efforts using traditional positional cloning, the causative genes for unsolved dystroglycanopathy cases have escaped discovery for several years. In a recent collaborative study, we discovered that loss-of-function recessive mutations in a novel gene, called isoprenoid synthase domain containing (ISPD), are a relatively common cause of Walker-Warburg syndrome. In this article, we report the involvement of the ISPD gene in milder dystroglycanopathy phenotypes ranging from congenital muscular dystrophy to limb-girdle muscular dystrophy and identified allelic ISPD variants in nine cases belonging to seven families. In two ambulant cases, there was evidence of structural brain involvement, whereas in seven, the clinical manifestation was restricted to a dystrophic skeletal muscle phenotype. Although the function of ISPD in mammals is not yet known, mutations in this gene clearly lead to a reduction in the functional glycosylation of alpha-dystroglycan, which not only causes the severe Walker-Warburg syndrome but is also a common cause of the milder forms of dystroglycanopathy.
ER -
CIRAK, Sebahattin, Aileen Reghan FOLEY, Ralf HERRMANN, Tobias WILLER, Shu YAU, Elizabeth STEVENS, Silvia TORELLI, Lina BRODD, Alisa KAMYNINA, Petr VONDRÁČEK, Helen ROPER, Cheryl LONGMAN, Rudolf KORINTHENBERG, Gianni MARROSU, Peter NUERNBERG, Daniel E MICHELE, Vincent PLAGNOL, Matt HURLES, Steven A MOORE, Caroline A SEWRY, Kevin P CAMPBELL, Thomas VOIT a Francesco MUNTONI. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. \textit{Brain}. OXFORD: OXFORD UNIV PRESS, roč.~136, Part 1, s.~269-281. ISSN~0006-8950. doi:10.1093/brain/aws312. 2013.
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