IDENTIFICATION OF BPESC1, A GENE DISRUPTED BY A BALANCED CHROMOSOMAL TRANSLOCATION T(3;4) (Q23;P15.2) IN A PATIENT WITH BPES

摘要

The present invention describes the isolation and characterisation of BPSC1, a novel gene associated with the blepharophimosis syndrome (BPES). The invention comprises new nucleic acid sequences and amino acid sequences, probes and primers derived thereof, and methods to detect this novel gene in the genome. Also provided by the invention are probes and primers for diagnosing BPES, as well as methods and kits for diagnosing the same. Also provided are compounds as well as compositions for treating BPES, and methods for screening and producing said compounds and compositions. The invention also provides transgenic non-human animals with symptoms related to BPES to test said compounds or compositions. Also provided are methods for treating or preventing BPES in a patient.