[MODY 3 correlations between the genotype and clinical manifestations of diabetes].

We analyzed the mutations identified in a family affected by Maturity-Onset Diabetes of the Young (MODY3), and searched for correlations between the genotype and clinical manifestations of diabetes. In 4 of 9 subjects we have demonstrated a heterozygous missense mutation in hepatocyte nuclear factor 1 alfa (HNF1α). The missense mutation, caused by a G>A transition at nucleotide 815 of exon 4 (c.

A new de novo mutation in the GCK gene causing MODY2.

Analysis of glucokinase (GCK) gene in a 15-year-old male identified a new frameshift mutation in exon 4 caused by a heterozygous guanine deletion at position 382 (c.382delG, p.E128Xfs).

High recurrence of the R1006C NOTCH3 mutation in central Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a heritable small-vessel disease caused by mutations in NOTCH3 gene and clinically characterized by recurrent ischemic strokes, migraine with aura, psychiatric symptoms, cognitive decline and dementia. Direct sequencing of NOTCH3 gene in 90 Italian patients of sixty-three unrelated families identified four heterozygous mutations (R141C and C144F in exon 4, G528C in exon 10 and R1006C in exon 19) in fifteen probands and sixteen relatives. We detected seventeen heterozygous/homozygous polymorphisms, four of them novel.

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.

Urinary tract infection caused by Kluyvera ascorbata in a child: case report and review of the kluyvera infections in children.

Kluyvera species are described infrequently in association with clinically significant infections, and infections caused by these gram negative rods are rare in children. The spectrum of disease due to Kluyvera infection in children includes urinary tract infections, enteritis, soft tissue infections, sepsis, central venous catheter infections and peritonitis. The authors report a case of Kluyvera ascorbata urinary tract infection in a 3-month-old female baby, and they review the literature on Kluyvera infections in children.