title: A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.
abstract: OBJECTIVE
  Screening of mutations in the paired box 3 (PAX3) gene in three generations of a Turkish family with Waardenburg syndrome type 1 (WS1).
  
  
  METHODS
  WS1 was diagnosed in a 13-month-old girl according to the WS Consortium criteria. Detailed family history of the proband revealed eight affected members in three generations. Routine clinical and audiological examination and ophthalmologic evaluation were performed on eight affected and five healthy members of the study family. Dystopia canthorum was detected in all affected patients; however, a brilliant blue iris was present in five patients who also had mild retinal hypopigmentation. Genomic DNA was extracted from the peripheral blood of affected and unaffected individuals in the family as well as 50 unrelated healthy volunteers. All coding exons and adjacent intronic regions of PAX3 were sequenced directly.
  
  
  RESULTS
  A novel missense heterozygous c.788T>G mutation was identified in eight patients. This nucleotide alteration was not found in unaffected members of the study family or in the 50 unrelated control subjects. The mutation causes V263G amino-acid substitution in the homeodomain of the PAX3 protein, which represents the 45(th) residue of helix 3.
  
  
  CONCLUSIONS
  We identified a novel missense c.788T>G mutation in PAX3 in a family with Waardenburg syndrome with intrafamilial phenotypic heterogeneity.
authors: Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey. filizhazan@hotmail.com
authors: Filiz
authors: F
authors: Hazan
authors: A Taylan
authors: AT
authors: Ozturk
authors: Hamit
authors: H
authors: Adibelli
authors: Nurettin
authors: N
authors: Unal
authors: Ajlan
authors: A
authors: Tukun
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005123:Eye / Q000473:pathology; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D014421:Turkey; D014849:Waardenburg Syndrome / Q000235:genetics* / Q000473:pathology
chemical_list: D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors
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