Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.
Recently point mutations in the SPTLC1 subunit of serine palmitoyltransferase have been shown to cause the common form of dominant hereditary sensory neuropathy (HSN1). Serine palmitoyltransferase (SPT) is a heterodimeric molecule made up of two subunits, SPTLC1 and SPTLC2. Twelve index patients from families with presumed genetic sensory neuropathies were screened for SPTLC2 mutations. These families comprised six multigenerational families, including two previously reported families not linked to the SPTLC1 locus on chromosome 9 and one multigenerational family with a complicated hereditary sensory neuropathy syndrome with associated palmar plantar keratosis, ataxia and spastic paraplegia. The remaining families included one consanguineous family with presumed recessive HSN with two affected siblings, one case of congenital sensory neuropathy and four sporadic cases with adult onset sensory neuropathy. No mutations in the SPTLC2 gene were found in any family. These results suggest that SPTLC2 mutations are not a common cause for genetic sensory neuropathies.
Dawkins
Jennifer L
JL
Neurobiology Laboratory, ANZAC Research Institute, University of Sydney, Concord Hospital, NSW 2139, Australia
Brahmbhatt
Sonal
S
Auer-Grumbach
Michaela
M
Wagner
Klaus
K
Hartung
Hans-Peter
HP
Verhoeven
Kristien
K
Timmerman
Vincent
V
De Jonghe
Peter
P
Kennerson
Marina
M
LeGuern
Eric
E
Nicholson
Garth A
GA
D000217:Acyltransferases / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14; D005091:Exons; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D051102:Serine C-Palmitoyltransferase
D000217:Acyltransferases; C495089:SPTLC2 protein, human; D051102:Serine C-Palmitoyltransferase