Source:http://linkedlifedata.com/resource/pubmed/id/19968670
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2010-1-25
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pubmed:abstractText |
Neurofibromatosis 2 (NF2) is caused by mutations in the NF2 gene predisposing carriers to develop nervous system tumours. Different NF2 mutations result in either loss/reduced protein function or gain of protein function (abnormally behaving mutant allele i.e. truncated protein potentially causing dominant negative effect). We present a comparison between the clinical presentations of patients with mutations that are predicted to produce truncated protein (nonsense/frameshift mutations) to those that results in loss of protein expression (large deletions) to elucidate further genotype-phenotype correlations in NF2. Patients with nonsense/frameshift mutations have a younger age of diagnosis and a higher prevalence/proportion of meningiomas (p = 0.002, p = 0.014), spinal tumours (p = 0.004, p = 0.004) and non-VIII cranial nerve tumours (p = 0.006, p = 0.003). We also found younger age of diagnosis of vestibular schwannomas (p = 0.007), higher mean numbers of cutaneous lesions (p = 0.003) and spinal tumours (p = 0.006) in these patients. With respect to NF2 symptoms, we found younger age of onset of hearing loss (p = 0.010), tinnitus (p = 0.002), paraesthesiae (p = 0.073), wasting and weakness (p = 0.001) and headaches (p = 0.049) in patients with nonsense/frameshift mutations. Our comparison shows, additional, new correlations between mutations in the NF2 gene and the NF2 disease phenotype, and this further confirms that nonsense/frameshift mutations are associated with more severe NF2 symptoms. Therefore patients with this class of NF2 mutation should be followed up closely.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1399-0004
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
77
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
163-70
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pubmed:meshHeading |
pubmed-meshheading:19968670-Adolescent,
pubmed-meshheading:19968670-Adult,
pubmed-meshheading:19968670-Female,
pubmed-meshheading:19968670-Genes, Neurofibromatosis 2,
pubmed-meshheading:19968670-Genetic Association Studies,
pubmed-meshheading:19968670-Genetic Markers,
pubmed-meshheading:19968670-Genotype,
pubmed-meshheading:19968670-Humans,
pubmed-meshheading:19968670-Male,
pubmed-meshheading:19968670-Mutation,
pubmed-meshheading:19968670-Neurofibromatosis 2,
pubmed-meshheading:19968670-Phenotype
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pubmed:year |
2010
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pubmed:articleTitle |
Further genotype--phenotype correlations in neurofibromatosis 2.
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pubmed:affiliation |
Department of Genetics, St Mary's Hospital, Manchester, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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