Table 1

 Mutations in ALMS1 causing premature protein truncation in Alström syndrome patients exhibiting early onset cardiomyopathy

PedigreeEthnic origin of familyNumber of affected individualsMutationMutation locationPredicted alteration
*Consanguineous marriage leading to homozygous mutations in affected children.
A*Northern Pakistani1+1+1+19011_9021del11Exon 10Frameshift, ORF incorporating 2aa then stop
B*Northern Pakistani3+1IVS8+895del1444Intron 8Deletion of exon 9, frameshift ORF incorporating 38aa then stop
C*Indian Punjab18008C→TExon 10Immediate stop
D*Northern Pakistani24937C→AExon 8Immediate stop
ECaucasian211107C→T/unknownExon 16/Immediate stop/unknown
FCaucasian211416C→T/unknownExon 16/Immediate stop/unknown
GNorthern Pakistani/ Caucasian18008C→T/10885C→TExon 10/Immediate stop/immediate stop