Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy: the critical role of LBX.
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.
Pediatric Neurology Unit, Quiron University Hospital, Madrid, Spain.
Alberto
A
Fernández-Jaén
Javier
J
Suela
Daniel Martín
DM
Fernández-Mayoralas
Ana Laura
AL
Fernández-Perrone
Karl R
KR
Wotton
Susanne
S
Dietrich
Maria del Carmen
Mdel C
Castellanos
Juan C
JC
Cigudosa
Beatriz
B
Calleja-Pérez
Sara
S
López-Martín
D002648:Child; D058674:Chromosome Duplication; D002879:Chromosomes, Human, Pair 10; D055028:Comparative Genomic Hybridization; D005260:Female; D056726:Genetic Association Studies; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D011859:Radiography; D012600:Scoliosis / Q000175:diagnosis / Q000235:genetics*; D013030:Spain; D013131:Spine / Q000000981:diagnostic imaging / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics
D018398:Homeodomain Proteins; C542809:LBX1 protein, human; D014157:Transcription Factors
10q24.31; LBX1; SHFM3; myopathy; scoliosis