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.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Lupi A,Rossi A,Campari E,Pecora F,Lund AM,Elcioglu NH,Gultepe M,Di Rocco M,Cetta G,Forlino Adoi
10.1136/jmg.2006.043315subject
Has Abstractpub_date
2006-12-01 00:00:00pages
e58issue
12eissn
0022-2593issn
1468-6244pii
43/12/e58journal_volume
43pub_type
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doi:
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