Source:http://linkedlifedata.com/resource/pubmed/id/18701883
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
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| pubmed:dateCreated |
2008-12-16
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| pubmed:abstractText |
We identified a homozygous missense mutation (c.196G-->T) in fibroblast growth factor 3 (FGF3) in 21 affected individuals from a large extended consanguineous Saudi family, phenotypically characterized by autosomal recessive syndromic congenital sensorineural deafness, microtia and microdontia. All affected family members are descendents of a common ancestor who had lived six generations ago in a geographically isolated small village. This is the second report of FGF3 involvement in syndromic deafness in humans, and independently confirms the gene's positive role in inner ear development. The c.196G-->T mutation results in substitution of glycine by cysteine at amino acid 66 (p.G66C). This residue is conserved in several species and across 18 FGF family members. Conserved glycine/proline residues are central to the 'beta-trefoil fold' characteristic of the secondary structure of FGF family proteins and substitution of these residues is likely to disrupt structure and consequently function.
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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 |
Jan
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| pubmed:issn |
1476-5438
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| pubmed:author | |
| pubmed:issnType |
Electronic
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| pubmed:volume |
17
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
14-21
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| pubmed:dateRevised |
2010-12-17
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| pubmed:meshHeading |
pubmed-meshheading:18701883-Abnormalities, Multiple,
pubmed-meshheading:18701883-Adolescent,
pubmed-meshheading:18701883-Adult,
pubmed-meshheading:18701883-Amino Acid Substitution,
pubmed-meshheading:18701883-Child,
pubmed-meshheading:18701883-Child, Preschool,
pubmed-meshheading:18701883-Chromosome Mapping,
pubmed-meshheading:18701883-Consanguinity,
pubmed-meshheading:18701883-Deafness,
pubmed-meshheading:18701883-Ear, External,
pubmed-meshheading:18701883-Ear, Inner,
pubmed-meshheading:18701883-Female,
pubmed-meshheading:18701883-Fibroblast Growth Factor 3,
pubmed-meshheading:18701883-Hearing Loss, Sensorineural,
pubmed-meshheading:18701883-Humans,
pubmed-meshheading:18701883-Infant,
pubmed-meshheading:18701883-Male,
pubmed-meshheading:18701883-Middle Aged,
pubmed-meshheading:18701883-Mutation, Missense,
pubmed-meshheading:18701883-Pedigree,
pubmed-meshheading:18701883-Syndrome,
pubmed-meshheading:18701883-Tooth Abnormalities,
pubmed-meshheading:18701883-Young Adult
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| pubmed:year |
2009
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| pubmed:articleTitle |
Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).
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| pubmed:affiliation |
Department of Genetics, Research Center, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
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| pubmed:publicationType |
Journal Article
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