Microdeletion 12p12 involving SOX5 gene: a new syndrome with developmental delay]

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.