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Article

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.

Genome medicine - 9 Dec 2019

Bahrambeigi Vahid, Song Xiaofei, Sperle Karen, Beck Christine R, Hijazi Hadia, Grochowski Christopher M, Gu Shen, Seeman Pavel, Woodward Karen J, Carvalho Claudia M B, Hobson Grace M, Lupski James R

Abstract excerpt

BACKGROUND: We investigated the features of the genomic rearrangements in a cohort of 50 male individuals with proteolipid protein 1 (PLP1) copy number gain events who were ascertained with Pelizaeus-Merzbacher disease (PMD; MIM: 312080). We then compared our new data to previous structural variant mutagenesis studies involving the Xq22 region of the human genome. The aggregate data from 159 sequenced join-points...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31818324
DOI: 10.1186/s13073-019-0676-0
PMCID: PMC6902434

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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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