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Article

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

Human genetics - 1 Oct 2016

Yuan Bo, Neira Juanita, Gu Shen, Harel Tamar, Liu Pengfei, Briceño Ignacio, Elsea Sarah H, Gómez Alberto, Potocki Lorraine, Lupski James R

Abstract excerpt

Hereditary neuropathy with liability to pressure palsies (HNPP) and Smith-Magenis syndrome (SMS) are genomic disorders associated with deletion copy number variants involving chromosome 17p12 and 17p11.2, respectively. Nonallelic homologous recombination (NAHR)-mediated recurrent deletions are responsible for the majority of HNPP and SMS cases; the rearrangement products encompass the key dosage-sensitive genes...

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Share to Chromosomes, Human, Pair 17
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27386852
DOI: 10.1007/s00439-016-1703-5
PMCID: PMC5021589

Genes

PMP22
RAI1
SMS

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.

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