Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Auer-Grumbach, M; Bode, H; Pieber, TR; Schabhüttl, M; Fischer, D; Seidl, R; Graf, E; Wieland, T; Schuh, R; Vacariu, G; Grill, F; Timmerman, V; Strom, TM; Hornemann, T.
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.
Eur J Med Genet. 2013; 56(5):266-269
Doi: 10.1016/j.ejmg.2013.02.002
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- Führende Autor*innen der Med Uni Graz
- Auer-Grumbach Michaela
- Co-Autor*innen der Med Uni Graz
- Pieber Thomas
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- Abstract:
- Mutations in the serine palmitoyltransferase subunit 1 (SPTLC1) gene are the most common cause of hereditary sensory neuropathy type 1 (HSN1). Here we report the clinical and molecular consequences of a particular mutation (p.S331Y) in SPTLC1 affecting a patient with severe, diffuse muscle wasting and hypotonia, prominent distal sensory disturbances, joint hypermobility, bilateral cataracts and considerable growth retardation. Normal plasma sphingolipids were unchanged but 1-deoxy-sphingolipids were significantly elevated. In contrast to other HSN patients reported so far, our findings strongly indicate that mutations at amino acid position Ser331 of the SPTLC1 gene lead to a distinct syndrome.
- Find related publications in this database (using NLM MeSH Indexing)
- Child, Preschool -
- Exons -
- Female -
- Hereditary Sensory and Autonomic Neuropathies - genetics
- Humans -
- Mutation -
- Phenotype -
- Serine - genetics
- Serine C-Palmitoyltransferase - genetics
- Sphingolipids - blood
- Find related publications in this database (Keywords)
- HSN
- HSAN
- SPTLC1
- Cataract
- Hereditary neuropathy