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Am J Med Genet A. 2014 Aug;164A(8):2074-8. doi: 10.1002/ajmg.a.36589. Epub 2014 Apr 29.

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

Author information

1
Pediatric Neurology Unit, Quiron University Hospital, Madrid, Spain.

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.

KEYWORDS:

10q24.31; LBX1; SHFM3; myopathy; scoliosis

PMID:
24782348
DOI:
10.1002/ajmg.a.36589
[Indexed for MEDLINE]

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