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Fig. 1 | Genome Biology

Fig. 1

From: GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition

Fig. 1

A novel neuropsychiatric disorder is linked to GNB5 mutation. a Pedigree of the study family. b Ideogram showing a single autozygous interval on chr15 (47,051,884-57,799,765, demarcated by SNPs rs11854077 and rs1280355) that is exclusively shared by the affected members. c Genome-wide linkage analysis shows a single linkage peak on chr15 with LOD ~4 that corresponds to the single autozygous interval shown in (b). A screenshot from the UCSC Genome Browser is shown to highlight the gene content of the linkage peak (GNB5 is boxed in red). d Schematic of GNB5 (transcript NM_ 006578) with the sequence chromatogram of the mutation shown on top. e Schematic of Gβ5 and the location of the missense mutation indicated. f Strong cross-species conservation of the Ser81 residue denoted with a red asterisk (black asterisks in the bottom denote highly conserved residues)

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