title: Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.
abstract: Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disease characterized by prominent sensory impairment, resulting in foot ulcers or amputations and has a juvenile to adult onset. The major underlying causes of HSAN I are mutations in SPTLC1, which encodes the first subunit of serine palmitoyltransferase (SPT). To date, there have been no reports with regard to an HSAN patient of Korean origin. In this report we discussed an HSAN I patient with a missense mutation in SPTLC1 (c.992C>T: p.S331F). The patient had noticed frequent falls, lower leg weakness and hand tremors at age five. The patient also presented with foot ulcers, muscle hypotrophy, cataracts, hoarseness, vocal cord palsy and respiratory difficulties and succumbed to the condition at the age of 28 years. In accordance with previous reports, a mutation in Ser331 in the present patient was associated with early-onset and a severe phenotype. Therefore, Ser331 in SPTLC1 is a crucial amino acid, which characterizes the HSAN I phenotype.
authors.affiliation: Department of Neurology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul 110-746, Republic of Korea.
authors.forename: Bum Chun
authors.initials: BC
authors.lastname: Suh
authors.affiliation: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-71, Republic of Korea.
authors.forename: Young Bin
authors.initials: YB
authors.lastname: Hong
authors.affiliation: Department of Biological Science, Kongju National University, Gongju, Chungnam 314-701, Republic of Korea.
authors.forename: Khriezhanuo
authors.initials: K
authors.lastname: Nakhro
authors.affiliation: Department of Biological Science, Kongju National University, Gongju, Chungnam 314-701, Republic of Korea.
authors.forename: Soo Hyun
authors.initials: SH
authors.lastname: Nam
authors.affiliation: Department of Biological Science, Kongju National University, Gongju, Chungnam 314-701, Republic of Korea.
authors.forename: Ki Wha
authors.initials: KW
authors.lastname: Chung
authors.affiliation: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-71, Republic of Korea.
authors.forename: Byung-Ok
authors.initials: BO
authors.lastname: Choi
mesh_terms: D000328:Adult; D017668:Age of Onset; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007871:Leg Ulcer / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D010375:Pedigree; D017422:Sequence Analysis, DNA; D051102:Serine C-Palmitoyltransferase / Q000235:genetics*
chemical_list: C487784:SPTLC1 protein, human; D051102:Serine C-Palmitoyltransferase