PMC8348243_01
clinical (A, B) and radiological (C, D) features of SHFM phenotypes observed in patient II: 6
PAMJ-39-21-g001.jpg
PMC8348243_01_PAMJ-39-21-g001.jpg
F1
On the left hand, she had a radial deviation of the thumb and second finger, partial cutaneous syndactyly of the thumb and second finger, cutaneous syndactyly of the third and fourth fingers, and an ulnar deviation of the third, fourth and fifth fingers (Figure 1A). On the left foot, she had a cleft foot, with a very broad hallux, concording with a syndactyly of the hallux and the second toe, and cutaneous syndactyly of the third and fourth toes (Figure 1B). On left hand, radiography showed radial deviation of the thumb and the second finger (Figure 1C). Radiography of the left foot showed fusion of the second phalanges of the hallux and second toe, absence of the second phalange of the third toe (Figure 1D).
A) pedigrees of the studied family, affected individuals are shaded, the proband is indicated by an arrow; investigated members by WES and Sanger sequencing are with an asterisk; B) electropherograms of identified homozygous WNT10B mutation; two patients (II: 4 and II:6) present homozygous R115 and both parents are heterozygotes (I: 1 and I: 2); one health brother (II: 3) shows homozygous wild-type; C) schematic view of the WNT10B gene structure, protein domains, and localization of identified WNT10B mutations; the mutations reported were indicated with green frame and the mutation identified in this study was indicated with red frame
PAMJ-39-21-g002.jpg
PMC8348243_01_PAMJ-39-21-g002.jpg
F2
Whole Exome Sequencing (WES) was undertaken for individuals I: 1, I: 2, II: 6 (Figure 2A). It was confirmed by Sanger sequencing, predicted to be damaging and segregated with the disease phenotype, such that all affected individuals were homozygous, whereas unaffected parents were heterozygous and unaffected sibling II : 3 was homozygous for the wild type (Figure 2A, Figure 2B).