Fig. 1: Pedigree diagram, clinical presentation, and Sanger sequencing of the family.

(i) Pedigree diagram showing the segregation of the UBA2 variant in an autosomal dominant manner. Male and female members are shown by squares and circles, respectively. Filled symbols denote the affected participants. The crossed shapes show the deceased individuals. The symbols labeled with asterisks designate the participants of the study. The genotypes are shown below each participant’s symbol. (ii) a–e The asymptomatic presentation of the mother of the affected individuals. f Facial picture of patient III-1 showing no facial dysmorphism. g, h Bilateral ectrodactyly of both hands and unilateral ectrodactyly in the right foot of patient III-1. i, j Radiographs of the hands and feet, respectively, of the patient (III-1). k Facial photograph of patient III-3 with no dysmorphic features. l, m Unilateral ectrodactyly of the right hand; however, there was no ectrodactyly in her feet. n, o Radiographs of the hands and feet, respectively. (iii) A The typical UBA2 gene structure consists of 17 exons. The variant is located in exon 11. B Sanger sequencing chromatograms of the unaffected father (II-1), asymptomatic heterozygous mother (II-2), an affected individual (III-1), an unaffected brother (III-2), and another affected member (III-3) in the pedigree.