A SHANK3 point mutation in three siblings with Autism Spectrum Disorder.

<p>A) Family pedigree depicting the three probands (III-1, III-2, III-3), parents, their siblings and grandparents. B) Mutation as evidenced by whole genome sequencing compared to reference sequence (GRCh37) at bottom. Broad lines represent aligned reads. The heterozygous deletion is depicted as black, thin lines that interrupt the reads. Each panel depicts the data from one proband, C) Capillary sequencing chromatograms of the probands and their parents. A red arrow signals the position of the deletion. The change in ORF is evidenced by the presence of double peaks after the deletion site caused by heterozygocity. D) Linear representations of the intact <i>SHANK3</i> protein featuring its major domains and the presumptive protein if translated from the mutated sequence. ANK: ankyrin repeats, SH3: SRC Homology 3 domain, PDZ: PDZ domain, Pro: Proline-rich region, SAM: Sterile alpha motif domain.</p