Table 1

Next generation whole exome data filtering criteria

Filtering criteria, family A	Number of variants V-1
Total number of variants	24 050
Coding missense, nonsense, splice and frameshift only	12 576
Homozygous variants	4706
Variant quality >10 LOD score > 0	1295
Frequency ≤1%	15
Exclude polymorphic repeats	13
Segregated with the disease in the family	1

Filtering criteria, family B	Number of variants
Filtering criteria, family B	IV-2	IV-3	IV-4
Total number of variants	193 481	189 325	269 432
Coding missense, nonsense, splice and frameshift only	15 472	15 367	15 532
Homozygous variants	5038	5196	5414
Shared variants	3417
Frequency ≤1%	373
Not homozygous in healthy sister IV-1 or in parents III-1 and III-2	1