Pedigree | Ethnic origin of family | Number of affected individuals | Mutation | Mutation location | Predicted alteration |
---|---|---|---|---|---|
*Consanguineous marriage leading to homozygous mutations in affected children. | |||||
A* | Northern Pakistani | 1+1+1+1 | 9011_9021del11 | Exon 10 | Frameshift, ORF incorporating 2aa then stop |
B* | Northern Pakistani | 3+1 | IVS8+895del1444 | Intron 8 | Deletion of exon 9, frameshift ORF incorporating 38aa then stop |
C* | Indian Punjab | 1 | 8008C→T | Exon 10 | Immediate stop |
D* | Northern Pakistani | 2 | 4937C→A | Exon 8 | Immediate stop |
E | Caucasian | 2 | 11107C→T/unknown | Exon 16/ | Immediate stop/unknown |
F | Caucasian | 2 | 11416C→T/unknown | Exon 16/ | Immediate stop/unknown |
G | Northern Pakistani/ Caucasian | 1 | 8008C→T/10885C→T | Exon 10/ | Immediate stop/immediate stop |