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- Title
Genetic basis of hyperlysinemia.
- Authors
Houten, Sander M.; Brinke, Heleen te; Denis, Simone; Ruiter, Jos P. N.; Knegt, Alida C.; de Klerk, Johannis B. C.; Augoustides-Savvopoulou, Persephone; Häberle, Johannes; Baumgartner, Matthias R.; Coskun, Turgay; Zschocke, Johannes; Sass, Jörn Oliver; Poll-The, Bwee Tien; Wanders, Ronald J. A.; Duran, Marinus
- Abstract
Background: Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the gene encoding a-aminoadipic semialdehyde synthase has been reported. We aimed to AASS better define the genetic basis of hyperlysinemia. Methods: We collected the clinical, biochemical and molecular data in a cohort of 8 hyperlysinemia patients with distinct neurological features. Results: We found novel causal mutations in in all affected individuals, including 4 missense mutations, AASS 2 deletions and 1 duplication. In two patients originating from one family, the hyperlysinemia was caused by a contiguous gene deletion syndrome affecting and AASS and PTPRZ1 Conclusions: Hyperlysinemia is caused by mutations in AASS and PTPRZ1 hyperlysinemia is generally considered a benign AASS metabolic variant, the more severe neurological disease course in two patients with a contiguous deletion syndrome may be explained by the additional loss of PIPRZ1. Our findings illustrate the importance of detailed PTPRZ1 biochemical and genetic studies in any hyperlysinemia patient.
- Subjects
METABOLIC disorders; GENETIC disorders; LYSINE; MISSENSE mutation; GENETIC mutation
- Publication
Orphanet Journal of Rare Diseases, 2013, Vol 8, Issue 1, p1
- ISSN
1750-1172
- Publication type
Article
- DOI
10.1186/1750-1172-8-57