Patent ID: 8163482

Claim:
A method for determining whether a subject has or is likely to develop Bardet-Biedl Syndrome (BBS), comprising the steps of: providing a biological sample of a subject; and determining whether the sample comprises a nucleotide sequence encoding a variant BBS10 polypeptide sequence, wherein the variant BBS10 polypeptide sequence has an amino acid sequence that differs from the sequence set forth in SEQ ID NO: 2 by one or more mutations selected from the group consisting of R34P, R49W, C91W, L170S, C195W, Y197C, F199Del, V240G, L308F, S311A, S329L, P363L, L414S, K579R, Y613H, Y613C, G677V, T689P, A13fs, S73fs, C91fs, V230fs, Q242fs, K243fs, F275fs, S303fs, Y321X, L348fs, L367fs, A474fs, T483fs, T514fs, Y559fs, and V707fs wherein the presence of a nucleotide sequence that encodes the variant BBS10 polypeptide sequence indicates that the subject has or is likely to develop BBS.