FIGURE

Fig. 1

ID

ZDB-FIG-231002-1

Publication

Kolvenbach et al., 2022 - X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

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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.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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