TY - JOUR
T1 - Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy
T2 - the critical role of LBX
AU - Fernandez-Jaen, Alberto
AU - Suela, Javier
AU - Fernandez-Mayoralas, Daniel Martin
AU - Fernandez-Perrone, Ana Laura
AU - Wotton, Karl R.
AU - Dietrich, Susanne
AU - Castellanos, Maria Del Carmen
AU - Cigudosa, Juan C.
AU - Calleja-Perez, Beatriz
AU - Lopez-Martin, Sara
N1 - This is the peer reviewed version of the following article: Fernández-Jaén A, Suela J, Fernández-Mayoralas DM, Fernández-Perrone AL, Wotton KR, Dietrich S, Castellanos MC, Cigudosa JC, Calleja-Pérez B, López-Martín S. 2014. Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy: The critical role of LBX. Am J Med Genet Part A 164A:2074–2078., which has been published in final form at http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36589/full This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.
PY - 2014/8
Y1 - 2014/8
N2 - 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.
AB - 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.
U2 - 10.1002/ajmg.a.36589
DO - 10.1002/ajmg.a.36589
M3 - Article
SN - 1552-4833
VL - 164
SP - 2074
EP - 2078
JO - American Journal of Medical Genetics. Part A
JF - American Journal of Medical Genetics. Part A
IS - 8
ER -