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

Alberto Fernandez-Jaen, Javier Suela, Daniel Martin Fernandez-Mayoralas, Ana Laura Fernandez-Perrone, Karl R. Wotton, Susanne Dietrich, Maria Del Carmen Castellanos, Juan C. Cigudosa, Beatriz Calleja-Perez, Sara Lopez-Martin

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Abstract

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.
Original languageEnglish
Pages (from-to)2074-2078
JournalAmerican Journal of Medical Genetics. Part A
Volume164
Issue number8
Early online date29 Apr 2014
DOIs
Publication statusPublished - Aug 2014

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