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Tang, P. HSAN IE. Encyclopedia. Available online: https://encyclopedia.pub/entry/6052 (accessed on 20 September 2026).
Tang P. HSAN IE. Encyclopedia. Available at: https://encyclopedia.pub/entry/6052. Accessed September 20, 2026.
Tang, Peter. "HSAN IE" Encyclopedia, https://encyclopedia.pub/entry/6052 (accessed September 20, 2026).
Tang, P. (2021, January 04). HSAN IE. In Encyclopedia. https://encyclopedia.pub/entry/6052
Tang, Peter. "HSAN IE." Encyclopedia. Web. 04 January, 2021.
HSAN IE
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hereditary-sensory-and-autonomic-neuropathy-type-ie

Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a disorder that affects the nervous system. It is characterized by three main features: hearing loss, a decline of intellectual function (dementia), and a worsening loss of sensation in the feet and legs (peripheral neuropathy).

genetic conditions

References

  1. Baets J, Duan X, Wu Y, Smith G, Seeley WW, Mademan I, McGrath NM, Beadell NC, Khoury J, Botuyan MV, Mer G, Worrell GA, Hojo K, DeLeon J, Laura M, Liu YT,Senderek J, Weis J, Van den Bergh P, Merrill SL, Reilly MM, Houlden H, GrossmanM, Scherer SS, De Jonghe P, Dyck PJ, Klein CJ. Defects of mutant DNMT1 are linkedto a spectrum of neurological disorders. Brain. 2015 Apr;138(Pt 4):845-61. doi:10.1093/brain/awv010.
  2. Klein CJ, Bird T, Ertekin-Taner N, Lincoln S, Hjorth R, Wu Y, Kwok J, Mer G,Dyck PJ, Nicholson GA. DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. Neurology. 2013 Feb 26;80(9):824-8. doi:10.1212/WNL.0b013e318284076d.
  3. Klein CJ, Botuyan MV, Wu Y, Ward CJ, Nicholson GA, Hammans S, Hojo K,Yamanishi H, Karpf AR, Wallace DC, Simon M, Lander C, Boardman LA, Cunningham JM,Smith GE, Litchy WJ, Boes B, Atkinson EJ, Middha S, B Dyck PJ, Parisi JE, Mer G, Smith DI, Dyck PJ. Mutations in DNMT1 cause hereditary sensory neuropathy withdementia and hearing loss. Nat Genet. 2011 Jun;43(6):595-600. doi:10.1038/ng.830.
  4. Sun Z, Wu Y, Ordog T, Baheti S, Nie J, Duan X, Hojo K, Kocher JP, Dyck PJ,Klein CJ. Aberrant signature methylome by DNMT1 hot spot mutation in hereditarysensory and autonomic neuropathy 1E. Epigenetics. 2014 Aug;9(8):1184-93. doi:10.4161/epi.29676.
  5. Yuan J, Higuchi Y, Nagado T, Nozuma S, Nakamura T, Matsuura E, Hashiguchi A,Sakiyama Y, Yoshimura A, Takashima H. Novel mutation in the replication focustargeting sequence domain of DNMT1 causes hereditary sensory and autonomicneuropathy IE. J Peripher Nerv Syst. 2013 Mar;18(1):89-93. doi:10.1111/jns5.12012.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Peter Tang
View Times: 1.5K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 04 Jan 2021
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