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Article

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

American journal of human genetics - 5 Nov 2015

Yuan Bo, Harel Tamar, Gu Shen, Liu Pengfei, Burglen Lydie, Chantot-Bastaraud Sandra, Gelowani Violet, Beck Christine R, Carvalho Claudia M B, Cheung Sau Wai, Coe Andrew, Malan Valérie, Munnich Arnold, Magoulas Pilar L, Potocki Lorraine, Lupski James R

Abstract excerpt

The genomic duplication associated with Potocki-Lupski syndrome (PTLS) maps in close proximity to the duplication associated with Charcot-Marie-Tooth disease type 1A (CMT1A). PTLS is characterized by hypotonia, failure to thrive, reduced body weight, intellectual disability, and autistic features. CMT1A is a common autosomal dominant distal symmetric peripheral polyneuropathy. The key dosage-sensitive genes RAI1...

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Source

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Identifiers

PMID: 26544804
DOI: 10.1016/j.ajhg.2015.10.003
PMCID: PMC4667131

Genes

PMP22
RAI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.PMID 26544804Read ↗

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