ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia

Hereditary sensory and autonomic neuropathies (HSAN) type II are characterized by autosomal recessive inheritance, onset at birth and self‐mutilating behavior. Here, we described a new patient with congenital insensitivity to pain, sensory neuropathy, acromutilation, and spastic paraplegia. Whole‐ex...

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Bibliographic Details
Published in:Clinical genetics 2018-01, Vol.93 (1), p.169-172
Main Authors: Nizon, M., Küry, S., Péréon, Y., Besnard, T., Quinquis, D., Boisseau, P., Marsaud, T., Magot, A., Mussini, J.‐M., Mayrargue, E., Barbarot, S., Bézieau, S., Isidor, B.
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing - genetics
Amino Acid Sequence
ARL6IP1
Autonomic nervous system
Autosomal recessive inheritance
Base Sequence
C-Terminus
Child, Preschool
Congenital defects
congenital insensitivity to pain
Endoplasmic reticulum
Female
Genetic Predisposition to Disease - genetics
Hereditary Sensory and Autonomic Neuropathies - genetics
hereditary sensory neuropathy
Heredity
Homozygote
Humans
Hydrophobicity
Male
Membrane Proteins - genetics
Mutation
Neuropathy
Pain
Pain Insensitivity, Congenital - genetics
Pain perception
Paralysis
Paraplegia - genetics
Pedigree
Spastic paraplegia
Transmembrane domains
Whole Exome Sequencing - methods
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Summary:Hereditary sensory and autonomic neuropathies (HSAN) type II are characterized by autosomal recessive inheritance, onset at birth and self‐mutilating behavior. Here, we described a new patient with congenital insensitivity to pain, sensory neuropathy, acromutilation, and spastic paraplegia. Whole‐exome sequencing showed a homozygous frameshift variant c.[577_580del], p.(Lys193Phefs*37) in ARL6IP1. The protein harbors reticulon‐like short hairpin transmembrane domains and has a role in endoplasmic reticulum shaping. The variant causes an additional C‐terminus hydrophobic domain which could disrupt its function. ARL6IP1 interacts with atlastin‐1 responsible for SPG3A and HSAN type ID. This report highlights the role of ARL6IP1 in the pathophysiology of insensitivity to pain and spastic paraplegia.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13048