Patent ID: 7629122
Filing Date: 2009-12-08
Classification: C12Q

Abstract:
1. A method for diagnosing a human as having an increased risk of developing Cornelia de Lange Syndrome (CdLS) comprising: a) providing a biological sample from said human comprising a nucleic acid molecule comprising an NIPBL (Nipped-B like) gene wherein said NIPBL gene encodes an NIPBL protein; and b) detecting in the NIPBL gene of step a) a genetic alteration which alters the length of the NIPBL protein encoded by the NTPBL gene of step a) such that the NIPBL protein encoded by the NIPBL gene of step a) is shorter than a protein consisting of SEQ ID NO: 3; wherein said genetic alteration in the NIPBL gene of step a) corresponds to an alteration in SEQ ID NO: 2 selected from the group consisting of: deletion of G at position 276, replacement of the nucleotides at positions 325-334 with SEQ ID NO: 121, deletion of CT at positions 868-869, deletion of A at position 1087, insertion of G at position 1672, insertion of C at position 1795, insertion of A at position 2028, deletion of AG at positions 2605-2606, deletion of T at position 2646, deletion of G at position 3095, deletion of TGTCT at positions 3149-3153, deletion of TAGA at positions 3183-3186, deletion of AGAG at positions 3186-3189, insertion of G at position 4095, deletion of AAAAA at positions 4691-4695, deletion of C at position 4693, deletion of AAGAC at positions 7277-7281, deletion of C at position 7336, deletion of G at position 7557, deletion of C at position 7906, and insertion of G at position 7951; or wherein said genetic alteration in the NIPBL gene of step a) is a nonsense mutation creating a stop codon at a position corresponding to the codon encoding an amino acid in the NIPBL protein of SEQ ID NO: 3 selected from the group consisting of: Arg at position 479, Arg at position 797, Arg at position 832, Glu at position 977, Ser at position 1024, Ser at position 1398, Ser at position 1459, Arg at position 1536, Arg at position 1723, and Arg at position 1758; and wherein said genetic alteration in the NIPBL gene of step a) is correlated with an increased risk of developing CdLS in said human.