ZFIN Image: Yao et al., 2022, Fig. 2

Image

Figure Caption

Fig. 2

(A) Flow chart outlining selection of the causative variant. (B) Schematic diagram of the ADAMTS2 gene showing the localization of the variant identified in this pedigree. (C) Sanger sequencing validation of the heterozygous c.3506G>T variant in the ADAMTS2 gene shows individuals I:2, II:1, and II:2 are heterozygous and I:1 is wild type. Red dotted frame indicates the position of causative variants. (D) Conservation of each amino acid residue across species is shown. The red arrow indicates the mutated amino acid. Glycine at position 1169 is conserved. (E) Regional plot of the association between ADAMTS2 and maxillary deficiency by logistic regression analysis. x-axis is the physical position in Mb with arrows denoting genes and expressed sequence tags in the region, the left y-axis plots the –log (p-value), and the right y-axis plots the CEPH recombination rate. The red horizontal line represents p = 0.05.

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Int. J. Mol. Sci.