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. TITLE:Microdelecion 12p12 que incluye el gen SOX5: un nuevo sindrome con alteracion del neurodesarrollo. :Introduccion. El gen SOX5 codifica un factor de transcripcion implicado en la regulacion de la condrogenia y el desarrollo del sistema nervioso. Caso clinico. Niña de 10 anos con discapacidad intelectual, alteracion conductual y malformaciones menores de este nuevo sindrome con alteracion en el neurodesarrollo, con una delecion 12p12 que incluye el gen SOX5. Conclusiones. Se revisan los casos publicados tanto de deleciones intragenicas de SOX5 como de deleciones mas grandes que incluyen este gen, y se analizan las correlaciones genotipo-fenotipo y los genes implicados en esta paciente.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Arroyo-Carrera I,de Zaldívar-Tristancho MS,Martín-Fernández R,Hernández-Martín R,López-Lafuente A,Rodríguez-Revenga Lsubject
Has Abstractpub_date
2015-05-16 00:00:00pages
453-6issue
10eissn
0210-0010issn
1576-6578pii
rn2014569journal_volume
60pub_type
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