Table 1.

Genome-wide Linkage and Rare Variant Exome Sequence Analysis Summary by Family

FamilyMLODhg19 RegionTTN MLODFiltered Exome Variants (TTN Variants), n
Pedigrees with segregating TTN truncating variants
A1.178chr19:57802806-580587390.7221 (TTN Arg13527stop)
B0.899chr11:1782594-56258470.7256 (TTN Ser19378stop, Ile2686Val)
C0.902chr6:35477032-426661640.03412 (TTN IVS 275+2 T>A)
D0.602chr18:6890434-70173220.44434 (TTN IVS 275+2 T>A, Gly29127Arg)
E0.301N/A*0.28328 (TTN Val28259SerfsX22)
F0.301N/A*0.23624 (TTN Lys28880AsnfsX8)
G0.601chr11:290816-68916050.54424 (TTN Arg31175stop)
Other pedigrees without segregating TTN truncating variants
Family 80.901chr10:62863518-64597506−2.17310
Family 90.474chr5:137754695-137426447N/A16
Family 100.601chr11:62863518-64597506N/A18
Family 110.301N/A*0.29622
Family 120.602chr22:29456733-35660875N/A29
Family 130.301N/A*−0.34736
Family 140.301N/A*−0.30543
Family 151.242chr10:99504630-100219374N/A43
Family 160.301N/A*−1.23851
Family 170.301N/A*−0.6680
  • MLOD indicates multipoint logarithm of odds (LOD) score across genome; N/A, not applicable because single-nucleotide variants at TTN locus were uninformative for linkage; and TTN MLOD, multipoint LOD score at TTN locus, number filtered exome variants refers to the number of top-ranking variants from exome pipeline with annotation of all top-ranking truncating and missense variants in TTN. Pedigrees A–G and 8–14 had 3 and pedigrees 15–17 had 2 affected family members, who underwent exome sequencing.

  • * Not applicable in that >1 region had the same MLOD score.