scholarly journals Variant Rett syndrome in a girl with a pericentric X‐chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene

2015 ◽  
Vol 46 (1) ◽  
pp. 82-87 ◽  
Author(s):  
José Pedro Vieira ◽  
Fátima Lopes ◽  
Anabela Silva‐Fernandes ◽  
Maria Vânia Sousa ◽  
Sofia Moura ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
X Chromosome ◽  
Epigenetic Changes ◽  
Mecp2 Gene ◽  
Chromosome Inversion

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 Rett syndrome: a neurodevelopmental disorder

2019 ◽  
Vol 6 (4) ◽  
pp. 1757
Author(s):  
Setu Dagli ◽  
Arpita Thakker Adhikari ◽  
Mona Gajre
Keyword(s):  
Genetic Testing ◽  
Developmental Delay ◽  
Rett Syndrome ◽  
X Chromosome ◽  
Genetic Disorder ◽  
Neurodevelopmental Disorder ◽  
Hand Movements ◽  
Global Developmental Delay ◽  
Mecp2 Gene ◽  
Ataxic Gait

Rett Syndrome is a rare genetic disorder caused by a mutation on the MECP2 gene on the X chromosome. It classically presents with neuroregression, loss of purposeful hand use, stereotypical involuntary hand wringing movements, an ataxic gait and acquired microcephaly with a large proportion of patients developing seizures. The authors present the case of a 3.5 year old girl with severe global developmental delay and regression, loss of purposeful hand use and an ataxic gait for 2 years and seizures since 5 days along with microcephaly with involuntary hand movements but no classic wringing movements with no significant findings on MRI and EEG and diagnosed with Rett Syndrome on the basis of genetic testing.

Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers

2006 ◽  
Vol 14 (11) ◽  
pp. 1189-1194 ◽  
Author(s):  
Gun Peggy S Knudsen ◽  
Tracey C S Neilson ◽  
June Pedersen ◽  
Alison Kerr ◽  
Marianne Schwartz ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation

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

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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