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Gewählte Publikation:

SHR Neuro Krebs Kardio Lipid

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 (- Case Report) [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Autor/innen der Med Uni Graz:
Auer-Grumbach Michaela
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
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