File:Jmedgenet-2012-101405f01 (1).jpg

English: Craniofacial features in Kaufman oculocerebrofacial syndrome and UBE3B domain structure. (A) The recognisable facial gestalt of the two affected subjects (UCSC_KS01, above; UCSC_KS02, below). Note the distinctive facies of the two affected subjects with microcephaly, sparse eyebrows with unusual profile, upslanting and narrow palpebral fissures, strabismus, cup shaped ears, preauricular tags, and micrognathia. (B) Pedigree structure of family UCSC_KS01. Genotyped members are indicated. (C) Scheme of the UBE3B domain structure. The ubiquitin ligase comprises an N-terminal IQ domain (IQ), and a C-terminal catalytic domain (homologous to the E6-AP carboxyl terminus). Numbers below the diagram indicate the amino acid boundaries of those domains. The location of identified mutations in patients UCSC_KS01 and UCSC_KS02 is also reported.