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Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy: The critical role of LBX
Author(s) -
FernándezJaén Alberto,
Suela Javier,
FernándezMayoralas Daniel Martín,
FernándezPerrone Ana Laura,
Wotton Karl R.,
Dietrich Susanne,
Castellanos Maria del Carmen,
Cigudosa Juan C.,
CallejaPérez Beatriz,
LópezMartín Sara
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36589
Subject(s) - girl , scoliosis , myopathy , congenital scoliosis , medicine , physical medicine and rehabilitation , psychology , developmental psychology , psychiatry
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.
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