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: Michaela Auer-Grumbach, Heiko Bode, Thomas R Pieber, Maria Schabhüttl, Dirk Fischer, Rainer Seidl, Elisabeth Graf, Thomas Wieland, Reinhard Schuh, Gerda Vacariu, Franz Grill, Vincent Timmerman, Tim M Strom, Thorsten Hornemann
• Journal: European journal of medical genetics (Eur J Med Genet) Vol. 56 Issue 5 Pg. 266-9 (May 2013) ISSN: 1878-0849 [Electronic] Netherlands
• PMID: 23454272 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Chemical References

• Sphingolipids
• Serine
• SPTLC1 protein, human
• Serine C-Palmitoyltransferase

Topics

• Child, Preschool
• Exons
• Female
• Hereditary Sensory and Autonomic Neuropathies (genetics, pathology)
• Humans
• Mutation
• Phenotype
• Serine (genetics)
• Serine C-Palmitoyltransferase (genetics)
• Sphingolipids (blood)