FIGURE 1

FIGURE 1

HFM pedigree and the identification of vwa1. (A) Diagram of the five-generation HFM pedigree. This is a five-generation Chinese kinship in which 8 of 11 direct relatives displayed HFM to varying degrees. The proband showed grade III bilateral ear deformities; individual III:1 in the pedigree had a grade II unilateral ear deformity, whereas other patients exhibited unilateral grade III ear deformities. All patients exhibited mandibular hypoplasia. Circles denote females and squares denote males. The text immediately below the symbols shows the ID of the corresponding family member; indicates that whole-exome sequencing was done. (B) Sanger sequencing results of the VWA1 mutation in the pedigree. Patients III:1, IV:5, V:1, V:2 and V:4, and the asymptomatic carrier IV:1, all had the same non-synonymous point mutation (c.G905A:p.R302Q) in VWA1, whereas the two marry-in members of the family (IV:2 and IV:6) did not.