ZFIN Image: Kolvenbach et al., 2022, Fig. 1

Image

Figure Caption

Fig. 1 Exome sequencing and copy number variation analyses in families with congenital malformations identify variants in SHROOM4. (A) Protein domain structures are depicted (https://smart.embl.de/). The position of newly identified single-nucleotide variants of families A and B and the partial deletion of SHROOM4 in families C and D are annotated in red. Previously reported single-nucleotide variants are shown in black. (B) Pedigree with two affected individuals in family A . III-1 presented with several congenital malformations with her maternally derived X-chromosome being activated in 84% of all lymphocytes. Pedigrees of families C and D that bear microdeletions including CLCN5 and SHROOM4 are depicted. Healthy carriers of variants are highlighted with a dot. Symbols representing affected individuals are shaded with different fill for differentiating clinical conditions. Black boxes depict the congenital malformation phenotype. Striped boxes illustrate Dent’s disease. Brackets denote adoption. Triangle denotes miscarriage. (C) Amino acid sequence conservation among species of p.Glu314Lys that was altered in SHROOM4 in family A. CC, coiled coil; wk, gestational age in weeks.

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 @ J. Med. Genet.