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Article

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

Clinical genetics - 1 Jan 2018

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 28471035
DOI: 10.1111/cge.13048

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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