title: Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.
abstract: Analysis of GCK and HNF1A genes in 32 MODY families identified three novel mutations: the missense mutation G170D and the deletion/insertion P432Xfs in GCK and the splicing mutation IVS4nt-1G>T, in HNF1A. For IVS4nt-1G>T the sequence analysis of RT-PCR products demonstrated exon skipping with the use of a cryptic splicing site.
authors.affiliation: U.O. Laboratorio Analisi Cliniche e Microbiologiche, Settore di Medicina Molecolare ASUR ZT13, Ascoli Piceno, Italy. alessia.cappelli@unicam.it
authors.forename: Alessia
authors.initials: A
authors.lastname: Cappelli
authors.forename: Stefano
authors.initials: S
authors.lastname: Tumini
authors.forename: Agostino
authors.initials: A
authors.lastname: Consoli
authors.forename: Silvia
authors.initials: S
authors.lastname: Carinci
authors.forename: Concettina
authors.initials: C
authors.lastname: Piersanti
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Ruggiero
authors.forename: Graziano
authors.initials: G
authors.lastname: Simonella
authors.forename: Filippo
authors.initials: F
authors.lastname: Soletti
authors.forename: Paolo
authors.initials: P
authors.lastname: Staffolani
authors.forename: Luigi
authors.initials: L
authors.lastname: Pianese
mesh_terms: D000293:Adolescent; D000328:Adult; D017398:Alternative Splicing; D002648:Child; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D005941:Glucokinase / Q000235:genetics*; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D020125:Mutation, Missense; D010641:Phenotype; D055815:Young Adult
chemical_list: C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D005941:Glucokinase