Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation

Suh,Bum  Chun; Hong,Young  Bin; Nakhro,Khriezhanuo; Nam,Soo  Hyun; Chung,Ki  Wha; Choi,Byung-Ok

doi:10.3892/mmr.2013.1808

Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation

Authors:
- Bum Chun Suh
- Young Bin Hong
- Khriezhanuo Nakhro
- Soo Hyun Nam
- Ki Wha Chung
- Byung-Ok Choi
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Affiliations: Department of Neurology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul 110-746, Republic of Korea, Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-71, Republic of Korea, Department of Biological Science, Kongju National University, Gongju, Chungnam 314-701, Republic of Korea
Published online on: November 18, 2013 https://doi.org/10.3892/mmr.2013.1808
Pages: 481-486

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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.

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