Identification of a new gene mutation FOXP1 in a patient initially diagnosed as C Opitz syndrome

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The whole-exome sequencing of a patient, published in the journal Scientific Reports, favored the diagnoses of FOXP1 syndrome, a rare disease, which shows autist features and language delay.

The whole-exome sequencing of a patient, published in the journal Scientific Reports, favored the diagnoses of FOXP1 syndrome, a rare disease, which shows autist features and language delay.

The team in charge of the study, led by Daniel Grinberg and Susana Balcells, members of the Institute of Biomedicine of Barcelona (IBUB), analyzed the exome (coding genes) of an Italian patient, aged thirty, who presented a tentative diagnosis of Opitz C syndrome, another rare disease that causes severe disabilities in patients. So far, neither the gen nor the mutation that caused the pathology was found.

With the exome sequencing, researchers found a de novo mutation –present in the affected person but not in his progenitors- in the FOXP1 gene. This patient shares many features with the other patients with FOXP1 syndrome, but like in all pathologies, each person is a different case. The patients with this rare syndrome, identified in 2010, share autistic features in behavior and language difficulties. 
https://www.nature.com/articles/s41598-017-19109-9

From left to right, the experts Roser Urreizti, Laura Castilla-Vallmanya, Daniel Grinberg and Susana Balcells