Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

2004 ◽  
Vol 23 (4) ◽  
pp. 395-395 ◽  
Author(s):  
Franco Laccone ◽  
Ivonne Jünemann ◽  
Sharon Whatley ◽  
Rhian Morgan ◽  
Rachel Butler ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Gene Dosage ◽  
Mecp2 Gene ◽  
Large Deletions

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

2004 ◽  
Vol 23 (3) ◽  
pp. 234-244 ◽  
Author(s):  
Franco Laccone ◽  
Ivonne Jünemann ◽  
Sharon Whatley ◽  
Rhian Morgan ◽  
Rachel Butler ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Gene Dosage ◽  
Mecp2 Gene ◽  
Large Deletions

scholarly journals Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis

2019 ◽  
Vol 7 (8) ◽  
Author(s):  
Silvia Vidal ◽  
Ainhoa Pascual‐Alonso ◽  
Marc Rabaza‐Gairí ◽  
Edgar Gerotina ◽  
Nuria Brandi ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Gene Dosage ◽  
Mecp2 Gene ◽  
Large Deletions

scholarly journals Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

2007 ◽  
Vol 15 (12) ◽  
pp. 1218-1229 ◽  
Author(s):  
Simon A Hardwick ◽  
Kirsten Reuter ◽  
Sarah L Williamson ◽  
Vidya Vasudevan ◽  
Jennifer Donald ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Familial Case ◽  
Mecp2 Gene ◽  
Large Deletions

Multiplex Ligation-Dependent Probe Amplification (MLPA) Detects Large Deletions in the MECP2 Gene of Swedish Rett Syndrome Patients

2003 ◽  
Vol 7 (4) ◽  
pp. 329-332 ◽  
Author(s):  
Anna Erlandson ◽  
Lena Samuelsson ◽  
Bengt Hagberg ◽  
Mårten Kyllerman ◽  
Mihailo Vujic ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Mecp2 Gene ◽  
Large Deletions ◽  
Dependent Probe

Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome

2006 ◽  
Vol 70 (5) ◽  
pp. 418-419 ◽  
Author(s):  
H Pan ◽  
M-R Li ◽  
P Nelson ◽  
X-H Bao ◽  
X-R Wu ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Chinese Patients ◽  
Mecp2 Gene ◽  
Large Deletions

scholarly journals Clinical Evaluation of Patients with Classical Rett Syndrome and MECP2 Gene Analysis

2021 ◽  
Vol 35 (1) ◽  
pp. 87-97
Author(s):  
Filiz Hazan ◽  
Semra Gürsoy ◽  
Aycan Ünalp ◽  
Ünsal Yılmaz
Keyword(s):  
Rett Syndrome ◽  
Clinical Evaluation ◽  
Gene Analysis ◽  
Mecp2 Gene

scholarly journals Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms

2007 ◽  
Vol 52 (4) ◽  
pp. 342-348 ◽  
Author(s):  
Daniela Zahorakova ◽  
Robert Rosipal ◽  
Jan Hadac ◽  
Alena Zumrova ◽  
Vladimir Bzduch ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Mutation Analysis ◽  
Mecp2 Gene ◽  
Novel Mutations

scholarly journals Rett syndrome and the MECP2 gene

2001 ◽  
Vol 38 (4) ◽  
pp. 217-223 ◽  
Author(s):  
T. Webb
Keyword(s):  
Rett Syndrome ◽  
Mecp2 Gene

Influence of MECP2 Gene Mutation and X-Chromosome Inactivation on the Rett Syndrome Phenotype

2004 ◽  
Vol 19 (7) ◽  
pp. 503-508 ◽  
Author(s):  
Jong Hee Chae ◽  
Hee Hwang ◽  
Yong Seung Hwang ◽  
Hee Jung Cheong ◽  
Ki Joong Kim
Keyword(s):  
Gene Mutation ◽  
Rett Syndrome ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Mecp2 Gene

scholarly journals Sphingolipid Metabolism Perturbations in Rett Syndrome

Metabolites ◽  
2019 ◽  
Vol 9 (10) ◽  
pp. 221 ◽  
Author(s):  
Cappuccio ◽  
Donti ◽  
Pinelli ◽  
Bernardo ◽  
Bravaccio ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Metabolic Profiling ◽  
Neurodevelopmental Disorder ◽  
Sphingolipid Metabolism ◽  
Tandem Mass ◽  
Mecp2 Gene ◽  
Loss Of Function ◽  
Disease Pathogenesis ◽  
Blood Samples ◽  
Disease Biomarkers

Rett syndrome is a severe neurodevelopmental disorder affecting mostly females and is caused by loss-of-function mutations in the MECP2 gene that encoded the methyl-CpG-binding protein 2. The pathogenetic mechanisms of Rett syndrome are not completely understood and metabolic derangements are emerging as features of Rett syndrome. We performed a semi-quantitative tandem mass spectrometry-based analysis that measured over 900 metabolites on blood samples from 14 female subjects with Rett syndrome carrying MECP2 mutations. The metabolic profiling revealed alterations in lipids, mostly involved in sphingolipid metabolism, and sphinganine/sphingosine, that are known to have a neurotrophic role. Further investigations are required to understand the mechanisms underlying such perturbations and their significance in the disease pathogenesis. Nevertheless, these metabolites are attractive for studies on the disease pathogenesis and as potential disease biomarkers.

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