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- Title
Genetic basis of hyperlysinemia.
- Authors
Houten, Sander M; Te Brinke, Heleen; Denis, Simone; Ruiter, Jos Pn; Knegt, Alida C; de Klerk, Johannis Bc; Augoustides-Savvopoulou, Persephone; Häberle, Johannes; Baumgartner, Matthias R; Coskun, Turgay; Zschocke, Johannes; Sass, Jörn Oliver; Poll-The, Bwee Tien; Wanders, Ronald Ja; Duran, Marinus; Coşkun, Turgay
- Abstract
<bold>Background: </bold>Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported. We aimed to better define the genetic basis of hyperlysinemia.<bold>Methods: </bold>We collected the clinical, biochemical and molecular data in a cohort of 8 hyperlysinemia patients with distinct neurological features.<bold>Results: </bold>We found novel causal mutations in AASS in all affected individuals, including 4 missense mutations, 2 deletions and 1 duplication. In two patients originating from one family, the hyperlysinemia was caused by a contiguous gene deletion syndrome affecting AASS and PTPRZ1.<bold>Conclusions: </bold>Hyperlysinemia is caused by mutations in AASS. As hyperlysinemia is generally considered a benign metabolic variant, the more severe neurological disease course in two patients with a contiguous deletion syndrome may be explained by the additional loss of PTPRZ1. Our findings illustrate the importance of detailed biochemical and genetic studies in any hyperlysinemia patient.
- Publication
Orphanet Journal of Rare Diseases, 2013, Vol 8, Issue 1, p57
- ISSN
1750-1172
- Publication type
journal article
- DOI
10.1186/1750-1172-8-57