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Article

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

American journal of human genetics - 7 Jan 2011

Guelly Christian, Zhu Peng-Peng, Leonardis Lea, Papić Lea, Zidar Janez, Schabhüttl Maria, Strohmaier Heimo, Weis Joachim, Strom Tim M, Baets Jonathan, Willems Jan, De Jonghe Peter, Reilly Mary M, Fröhlich Eleonore, Hatz Martina, Trajanoski Slave, Pieber Thomas R, Janecke Andreas R, Blackstone Craig, Auer-Grumbach Michaela

Abstract excerpt

Hereditary sensory neuropathy type I (HSN I) is an axonal form of autosomal-dominant hereditary motor and sensory neuropathy distinguished by prominent sensory loss that leads to painless injuries. Unrecognized, these can result in delayed wound healing and osteomyelitis, necessitating distal amputations. To elucidate the genetic basis of an HSN I subtype in a family in which mutations in the few known HSN I...

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Source

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Identifiers

PMID: 21194679
DOI: 10.1016/j.ajhg.2010.12.003
PMCID: PMC3014370

Genes

ATL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.PMID 21194679Read ↗

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The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features.Semantic proximity Read ↗

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