Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Abstract | BACKGROUND: RESULTS: We identified 13 additional cases from 12 families and defined seven novel mutations. Patients displayed variable phenotypes including less typical pictures, ranging from asymptomatic hyperCKemia, to arthrogryposis and congenital clubfoot at birth, and also showed neurodevelopmental comorbidities, such as seizures and ataxic gait, as well as autism-spectrum disorder, which is seldom described in clinical reports of dystroglycanopathies. We also demonstrated that few mutations recur in the Italian GMPPB-mutated population and that alterations of protein stability are the main effects of GMPPB missense variants. CONCLUSION: This work adds to the data on genotype-phenotype correlations in α-DG and offers new bionformatic tools to provide the conceptual framework needed to understand the complexity of these disorders.
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Authors | Guja Astrea, Alessandro Romano, Corrado Angelini, Carlo Giuseppe Antozzi, Rita Barresi, Roberta Battini, Carla Battisti, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Marina Fanin, Fabiana Fattori, Chiara Fiorillo, Renzo Guerrini, Lorenzo Maggi, Eugenio Mercuri, Federica Morani, Marina Mora, Francesca Moro, Ilaria Pezzini, Esther Picillo, Michele Pinelli, Luisa Politano, Anna Rubegni, Walter Sanseverino, Marco Savarese, Pasquale Striano, Annalaura Torella, Carlo Pietro Trevisan, Rosanna Trovato, Irina Zaraieva, Francesco Muntoni, Vincenzo Nigro, Adele D'Amico, Filippo M Santorelli, Italian CMD Network |
Journal | Orphanet journal of rare diseases
(Orphanet J Rare Dis)
Vol. 13
Issue 1
Pg. 170
(09 26 2018)
ISSN: 1750-1172 [Electronic] England |
PMID | 30257713
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Dystroglycans
- Nucleotidyltransferases
- mannose 1-phosphate guanylyltransferase
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Topics |
- Adult
- Aged
- Cross-Sectional Studies
- Dystroglycans
(metabolism)
- Female
- Genetic Association Studies
- Humans
- Male
- Middle Aged
- Muscular Dystrophies
(genetics, metabolism)
- Muscular Dystrophies, Limb-Girdle
(genetics, metabolism)
- Mutation
(genetics)
- Mutation, Missense
(genetics)
- Nucleotidyltransferases
(genetics, metabolism)
- Young Adult
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