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Pedigree showing direct lines of descent between founder brothers and children in Robinson Crusoe validation cohort.

figure

posted on 2015-03-17, 03:24 authored by Pía Villanueva, Ron Nudel, Alexander Hoischen, María Angélica Fernández, Nuala H. Simpson, Christian Gilissen, Rose H. Reader, Lillian Jara, Maria Magdalena Echeverry, Clyde Francks, Gillian Baird, Gina Conti-Ramsden, Anne O’Hare, Patrick F. Bolton, Elizabeth R. Hennessy, Hernán Palomino, Luis Carvajal-Carmona, Joris A. Veltman, Jean-Baptiste Cazier, Zulema De Barbieri, Simon E. Fisher, Dianne F. Newbury

Founder brothers are individuals on the second line of the pedigree. Individuals with language impairment are colored in black. Individuals with typical language are denoted in white. Individuals with unknown phenotype are shaded grey. Genotypes at rs144169475 are represented by small circles; blue circles represent homozygote reference allele, red circles represent variant carriers, grey circles represent unknown genotype. Note that each individual may be represented through multiple lines of descent and so might appear more than once on this diagram. Children are labelled according to affection status—SLI1 to SLI15 and TLD1 to TLD17. Cases whose exomes were sequenced are indicated by asterisks. Three children (1 affected, 2 unaffected, none of whom carried the rs144169475 variant) are not represented on this figure since they were related to alternative founder families. SLI15 is known to be related to one of the founder brothers but the exact line of descent is unknown.