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

• Published in: American journal of medical genetics. Part A Vol. 164A; no. 8; pp. 2074 - 2078
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.08.2014; Wiley Subscription Services, Inc
• Subjects: 10q24.31; Child; Chromosome Duplication; Chromosomes, Human, Pair 10; Comparative Genomic Hybridization; Female; Genetic Association Studies; Homeodomain Proteins - genetics; Humans; LBX1; Magnetic Resonance Imaging; Muscular Diseases - diagnosis; Muscular Diseases - genetics; myopathy; Phenotype; Radiography; scoliosis; Scoliosis - diagnosis; Scoliosis - genetics; SHFM3; Spain; Spine - diagnostic imaging; Spine - pathology; Transcription Factors - genetics; 10q24.31; SHFM3; LBX1; myopathy; scoliosis
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.36589

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 congenital scoliosis, and marked hypotrophy of paravertebral muscles. Her paternal aunt had a severe and progressive myopathy with a genetic study that revealed the same duplication. We propose to consider genetic studies, particularly of LBX1, in patients with scoliosis and/or hypotrophy‐hypoplasia of paravertebral muscles of unknown etiology. © 2014 Wiley Periodicals, Inc.