Document Detail


Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy.
MedLine Citation:
PMID:  17903671     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Mutations in the methyl-cytosine-phosphate-guanosine dinucleotide (CpG) binding protein 2 gene are identified in up to 90% of patients with classic Rett syndrome. However, the lack of methyl-CpG binding protein 2 mutations in a small group of classic Rett syndrome cases, and the low frequency of these mutations in atypical Rett syndrome patients, suggest that other gene defects may play a role in this disorder. One report described a patient with atypical Rett syndrome who presented with early epilepsy and a de novo translocation which disrupted the Netrin G1 gene. This study tested a sample of 91 female patients with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome without epilepsy for mutations in the Netrin G1 gene, to evaluate its involvement in this condition. Nine sequence variations (including six novel variations) were identified, all of which were unlikely to be pathogenic. One was a novel C to G transversion, resulting in a p.Leu537Val amino-acid substitution in one patient. The same substitution was detected in the asymptomatic mother, suggesting an absence of biological significance. Our study suggests that Netrin G1 is not involved in atypical Rett syndrome or in unexplained encephalopathy with epilepsy, but in specific forms to be delineated better in the future.
Authors:
Juliette Nectoux; Benoit Girard; Nadia Bahi-Buisson; Fabienne Prieur; Alexandra Afenjar; Haydee Rosas-Vargas; Jamel Chelly; Thierry Bienvenu
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric neurology     Volume:  37     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2007 Oct 
Date Detail:
Created Date:  2007-10-01     Completed Date:  2007-11-20     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  270-4     Citation Subset:  IM    
Affiliation:
Assistance Publique-Hopitaux de Paris, Laboratoire de Biochimie et Génétique Moléculaires, Hôpital Cochin, France.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Amino Acid Substitution
Base Sequence
Brain Diseases / genetics
Child
Child, Preschool
Epilepsy / genetics*
Female
Genetic Variation
Glycoproteins / genetics*
Humans
Leucine
Mutation*
Nerve Tissue Proteins / genetics*
Phenotype
Rett Syndrome / genetics*
Valine
Chemical
Reg. No./Substance:
0/Glycoproteins; 0/NTNG1 protein, human; 0/Nerve Tissue Proteins; 61-90-5/Leucine; 7004-03-7/Valine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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