1.
J Med Genet
; 43(12): e58, 2006 Dec.
Article
in English
| MEDLINE
| ID: mdl-17142620
ABSTRACT
Prolidase deficiency (PD) is a rare autosomal recessive connective tissue disorder caused by mutations in the prolidase gene. The PD patients show a wide range of clinical outcomes characterised mainly by intractable skin ulcers, mental retardation and recurrent respiratory infections. Here we describe five different PEPD mutations in six European patients. We identified two new PEPD mutant alleles: a 13 bp duplication in exon 8, which is the first reported duplication in the prolidase gene and a point mutation resulting in a change in amino acid E412, a highly conserved residue among different species. The E412K substitution is responsible for the first reported phenotypic variability within a family with severe and asymptomatic outcomes.
Subject(s)
Dipeptidases/deficiency , Dipeptidases/genetics , Gene Duplication , Mutation/genetics , Adult , Amino Acid Sequence , Child , Child, Preschool , Connective Tissue Diseases/enzymology , Connective Tissue Diseases/genetics , Connective Tissue Diseases/pathology , DNA Mutational Analysis , Denmark , Family Health , Female , Genotype , Humans , Intellectual Disability/pathology , Italy , Male , Molecular Sequence Data , Mutation, Missense/genetics , Pedigree , Phenotype , Sequence Homology, Amino Acid , Skin Ulcer/pathology , Turkey
2.
G Clin Med
; 68(12): 657, 659-61, 1987 Dec.
Article
in Italian
| MEDLINE
| ID: mdl-3447923
Subject(s)
Acidosis/etiology , Hypoxia/etiology , Liver Cirrhosis/complications , Acidosis/blood , Acidosis/physiopathology , Adult , Aged , Blood Gas Monitoring, Transcutaneous , Chlorides/analysis , Erythrocytes/analysis , Female , Humans , Hypoxia/blood , Hypoxia/physiopathology , Liver Cirrhosis/blood , Liver Cirrhosis/physiopathology , Male , Middle Aged
3.
Clin Ter
; 120(1): 11-5, 1987 Jan 15.
Article
in Italian
| MEDLINE
| ID: mdl-2973850