The financial contributions made some years ago by individuals and public administration bodies in the telemarathon solidarity events on the Basque Public Broadcasting Corporation (EiTB) and subsequently channelled through the Basque Foundation for Health Innovation and Research (BIOEF), has resulted in undertaking successful innovative research at the Cruces Hospital near Bilbao in the Basque province of Bizkaia, describing a new syndrome of limited family intellectual disability.
The team led by geneticist Isabel Tejada described for the first time to the world that the duplication of the RPS6KA3 gene produces a limited intellectual disability in asymptomatic mothers who are carriers. This gene is found on the X chromosome, and one that has made the genetics laboratory at the Bizkaian hospital a reference at an international level. The complete research was published in the scientific journal Paediatrics.
This discovery turns out to be especially relevant because, although the genetic causes of serious intellectual disability has a wealth of research literature, "in cases of slight or limited intellectual disability, the genetic causes are only known in a small percentage of cases", pointed out Ms Tejada, in charge of the Molecular Genetics Laboratory at the Cruces Hospital and the research leader.
The research was initiated when a mother attended a neuropaediatric clinic with a child who had psychomotor retardation which he had had since the first year of life, "although without any facial dysmorphia or associated anomalies", and was referred to the genetics laboratory for case study. The patient had two maternal uncles who also had psychomotor impairment and who had been unable to complete primary school education, although they lived self-sufficiently.
"A karyotype or chromosomal X-fragile syndrome and a molecular study" were carried out on the patient. But, in the absence of a positive result being registered for
|Contact: Oihane Lakar|