Microdeletion 12p12 involving SOX5 gene: a new syndrome with developmental delay]
REVISTA DE NEUROLOGIA(2015)
Abstract
Introduction. The SOX5 gene encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. Case report. We report a 10 years-old girl with developmental delay, behavior problems and dysmorphic features of this new syndrome with developmental delay. She had a 12p12 deletion involving SOX5. Conclusions. We review the reported cases, intragenic SOX5 deletions and larger 12p12 deletions encompassing SOX5. We analyze the genotype-phenotype associations and the genes involved in our patient.
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Key words
Behaviour problems,Developmental delay,Interstitial deletion,Intragenic deletion,Microarray,SOX5
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