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Article

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.

Journal of human genetics - 1 Jun 2014

Yamamoto Toshiyuki, Wilsdon Anna, Joss Shelagh, Isidor Bertrand, Erlandsson Anna, Suri Mohnish, Sangu Noriko, Shimada Shino, Shimojima Keiko, Le Caignec Cédric, Samuelsson Lena, Stefanova Margarita

Abstract excerpt

The majority of Xq22 duplications seen in patients with Pelizaeus-Merzbacher disease (PMD) include proteolipid protein 1 (PLP1), the gene responsible for PMD, and neighboring genes. Some cases result from larger duplications up to 7 Mb in size. In comparison, the deletions including PLP1 seen in PMD patients are small. In this study, we present the genetic and clinical information for five female patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24646727
DOI: 10.1038/jhg.2014.21

Genes

PLP1

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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