Figure 1

Phenotype and genotype of index patient. (A) Pedigree. (B) Facial phenotype of the patient. Note the sloping forehead, the convex facial profile, the full lips, and the small chin. The appearance of low-set and posteriorly rotated ears on the lateral picture is partly due to reclination of the head. See Additional file 1: Figure S1 for photo of sibling II:1. (C) Representative electropherogram traces confirm the heterozygous frameshift mutation c.2864-2867delACAG in the index patient and her father and the heterozygous missense mutation c.1313G>A in the index patient and her mother (NM_001083961.1 transcript reference sequence). (D) Sequence alignment of corresponding WDR62 protein regions depict the highly conserved amino acids affected by the maternally inherited missense mutation (p.R438H) and the position of the paternally inherited frameshift mutation (p.D955Afs*112): Human (Homo sapiens) UniProt O43379, Chimpanzee (Pan troglodytes) GenBank JAA38944.1, Rhesus monkey (Macaca mulatta) GenBank AFH29290.1, Cat (Felis catus) GenBank XP_003998018.1, Mouse (Mus musculus) GenBank NP_666298.3, Fruit fly (Drosophila melanogaster) Fly Base ID FBgn0031374. (E) Known WDR62 gene mutations according to HGMD Professional 2012.4 and the present paper. Mutations types are color-coded, i.e. missense in red, frameshift in blue, nonsense in black, and splice site mutations in green. The positions of the mutations detected in the index patient are emphasized through bold letters (c.1313G>A also present in the index patient has been previously reported [4]).