Fig. 6: Identification of a DALRD3 variant linked to developmental delay and epileptic encephalopathy. | Nature Communications

Fig. 6: Identification of a DALRD3 variant linked to developmental delay and epileptic encephalopathy.

From: DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification

Fig. 6

a Pedigree of the family harboring a nonsense mutation in the DALRD3 gene. b Patients 1 and 2 (P1 and P2) containing the homozygous DALRD3 mutation. c Agile MultiIdeogram output of autozygosity analysis of the study family as a series of block arcs with the two affected individuals represented by the outer two arcs. Autozygous regions from affected individuals are marked as pale blue, those from unaffected individuals as pink, and those homozygous in all affected individuals as dark blue. d Sanger sequencing chromatograms of the indicated individuals from the family in this study along with a wildtype, control individual.

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