Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene.
FAM134B gene
RETREG1 gene
hereditary sensory autonomic neuropathy
ulcero-mutilating neuropathy
Journal
Journal of the peripheral nervous system : JPNS
ISSN: 1529-8027
Titre abrégé: J Peripher Nerv Syst
Pays: United States
ID NLM: 9704532
Informations de publication
Date de publication:
12 2019
12 2019
Historique:
received:
10
08
2019
revised:
27
09
2019
accepted:
30
09
2019
pubmed:
10
10
2019
medline:
11
8
2020
entrez:
10
10
2019
Statut:
ppublish
Résumé
Hereditary sensory autonomic neuropathy (HSAN) type II is a rare, autosomal recessive, and early onset sensory neuropathy, characterized by severe and progressive sensation impairment, leading to ulcero-mutilating complications. FAM134B gene, also known as RETREG1 gene, mutations have been reported to be associated to HSAN-IIB. We report four patients from two unrelated families who developed during childhood a sensory axonal neuropathy with variable severity and pronounced nociception impairment. Complications such as recurrent ulcerations, osteomyelitis, and osteonecrosis leading to distal amputation were noticed. Dysautonomia was mild or even absent in our group of patients. Additionally, either clinical or neurophysiological motor impairment was not uncommon. Presence of upper motor neuron signs was also a distinctive feature in two related patients. After extensive workup, two novel homozygous mutations in the FAM134B gene were identified. This report expands the clinical and genetic spectrum of HSAN type II and emphasizes the phenotype variability even within the same family.
Substances chimiques
Intracellular Signaling Peptides and Proteins
0
Membrane Proteins
0
RETREG1 protein, human
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
354-358Informations de copyright
© 2019 Peripheral Nerve Society.
Références
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