Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.
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.
Cappelli
Alessia
A
U.O. Laboratorio Analisi Cliniche e Microbiologiche, Settore di Medicina Molecolare ASUR ZT13, Ascoli Piceno, Italy. alessia.cappelli@unicam.it
Tumini
Stefano
S
Consoli
Agostino
A
Carinci
Silvia
S
Piersanti
Concettina
C
Ruggiero
Giuseppina
G
Simonella
Graziano
G
Soletti
Filippo
F
Staffolani
Paolo
P
Pianese
Luigi
L
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
C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D005941:Glucokinase