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Article

Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy: the critical role of LBX.

American journal of medical genetics. Part A - 1 Aug 2014

Fernández-Jaén Alberto, Suela Javier, Fernández-Mayoralas Daniel Martín, Fernández-Perrone Ana Laura, Wotton Karl R, Dietrich Susanne, Castellanos Maria del Carmen, Cigudosa Juan C, Calleja-Pérez Beatriz, López-Martín Sara

Abstract excerpt

LBX1 plays a cardinal role in neuronal and muscular development in animal models. Its function in humans is unknown; it has been reported as a candidate gene for idiopathic scoliosis. Our goal is to document the first clinical case of a microduplication at 10q24.31 (chr10:102927883-103053612, hg19), affecting exclusively LBX1. The patient, a 12-year-old girl, showed attention problems, dyspraxia, idiopathic...

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Share to Chromosome Duplication
Share to Chromosomes, Human, Pair 10

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Source

Identifiers

PMID: 24782348
DOI: 10.1002/ajmg.a.36589

Genes

LBX1

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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