title: Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.
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.
authors: Department of Internal Medicine, Division of Endocrinology and Metabolism, Medical University of Graz, Graz, Austria. michaela.auer-grumbach@meduniwien.ac.at
authors: Michaela
authors: M
authors: Auer-Grumbach
authors: Heiko
authors: H
authors: Bode
authors: Thomas R
authors: TR
authors: Pieber
authors: Maria
authors: M
authors: Schabhüttl
authors: Dirk
authors: D
authors: Fischer
authors: Rainer
authors: R
authors: Seidl
authors: Elisabeth
authors: E
authors: Graf
authors: Thomas
authors: T
authors: Wieland
authors: Reinhard
authors: R
authors: Schuh
authors: Gerda
authors: G
authors: Vacariu
authors: Franz
authors: F
authors: Grill
authors: Vincent
authors: V
authors: Timmerman
authors: Tim M
authors: TM
authors: Strom
authors: Thorsten
authors: T
authors: Hornemann
mesh_terms: D002675:Child, Preschool; D005091:Exons; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics* / Q000473:pathology; D006801:Humans; D009154:Mutation; D010641:Phenotype; D012694:Serine / Q000235:genetics*; D051102:Serine C-Palmitoyltransferase / Q000235:genetics*; D013107:Sphingolipids / Q000097:blood
chemical_list: D013107:Sphingolipids; D012694:Serine; C487784:SPTLC1 protein, human; D051102:Serine C-Palmitoyltransferase