title: Identification of one novel causative mutation in exon 4 of WFS1 gene in two Italian siblings with classical DIDMOAD syndrome phenotype.
abstract: The aim of the present paper is to describe a novel missense mutation (G107R) of WFS1 gene that was unexpectedly detected, in two siblings from Southern Italy, outside exon 8; a very unusual finding which has previously been reported only twice in Italian patients with Wolfram syndrome (WS). Although in Spanish pedigrees' WFS1 mutations are frequently located in exon 4, this finding is very infrequent in other pedigrees, particularly in Italian patients.
  
  
  CONCLUSIONS
  a) our report of two siblings with one novel WSF1 mutation (G107R) expands the molecular spectrum of WS; b) this is the 3rd report of Italian patients harbouring one mutation outside exon 8 and the 2nd with one mutation in exon 4; c) on the basis of the present observations, and literature data we can infer that mutation locations outside exon 8 do not seem to be clearly associated with peculiar phenotype expressions of WFS1 gene.
authors.affiliation: Department of Pediatrics, University of Messina, Messina, Italy.
authors.forename: Luciana
authors.initials: L
authors.lastname: Rigoli
authors.forename: Fortunato
authors.initials: F
authors.lastname: Lombardo
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Salzano
authors.forename: Chiara
authors.initials: C
authors.lastname: Di Bella
authors.forename: Maria Francesca
authors.initials: MF
authors.lastname: Messina
authors.forename: Filippo
authors.initials: F
authors.lastname: De Luca
authors.forename: Dario
authors.initials: D
authors.lastname: Iafusco
mesh_terms: D001483:Base Sequence; D002096:C-Peptide / Q000097:blood; D002648:Child; D005091:Exons; D005260:Female; D005838:Genotype; D006442:Glycated Hemoglobin / Q000378:metabolism; D006801:Humans; D007558:Italy; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D035781:Siblings; D044465:White People / Q000235:genetics*; D014929:Wolfram Syndrome / Q000175:diagnosis / Q000235:genetics*
chemical_list: D002096:C-Peptide; D006442:Glycated Hemoglobin; D008565:Membrane Proteins; C114987:wolframin protein
keywords: D; DI; DIDMOAD; DM; Italian pedigree; OA; Phenotype expression; WS; Wolfram syndrome; Wolframin; deafness; diabetes insipidus; diabetes insipidus, diabetes mellitus, optic atrophy, deafness; juvenile-onset diabetes mellitus; optic atrophy