Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice
Figure 2
(a) Family pedigrees and associated SMOC1 mutations identified. The pedigree for Family 1 is representative and shows segregation of a homozygous SMOC1 mutation (c.911delG; p.Asp305MetfsX59) in affected individuals with both parents (and all unaffected sibs) being heterozygous carriers. (b) Schematic of the SMOC1 gene (top) and predicted protein (below), illustrating the exon positions for all eight mutations identified in the OAS families. Coding exons are coloured black and numbered, UTRs are brown, protein domains are labeled with amino acid residue numbers. Red arrowheads indicate the position of the mutations in the peptide. Red asterisks highlight the missense changes, which are located in the second thyroglobulin domain thought to be involved in the control of proteolytic degradation (n.t.- Sample not tested).