ZFIN Image: Truong et al., 2023, Fig. 1.

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Figure Caption

Fig. 1.

PRDM1 variants of unknown significance identified in families with split hand/foot malformation (SHFM). (A) Table showing PRDM1 variants and predictions of pathogenicity based on various bioinformatics tools. CADD, Combined Annotation-Dependent Depletion; FS, frameshift; MAF, minor allele frequency; MutTat, MutationTaster; NA, not applicable; PP2_HD, Polymorphism Phenotyping v2 HumDiv; SIFT, Sorting Intolerant From Tolerant. (B) Schematic of PRDM1 structure and location of variants identified in individuals with SHFM. (C) Pedigree for family with PRDM1 variant #1, c.712_713insT (p.C239Lfs*32). The symbols representing affected individuals are shaded. Standard pedigree symbols are used. The variant is inherited in an autosomal-dominant manner with incomplete penetrance and variable expressivity. Photographs of the limbs of the individuals in the family are also shown. (D) Pedigree for family with PRDM1 variant #2, c.1571C>G (p.T524R). (E) Pedigree for family with PRDM1 variant #3, c.2455A>G (p.T819A). Variants #2 and #3 are de novo.

Acknowledgments

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