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. Author manuscript; available in PMC: 2015 Oct 1.
Published in final edited form as: Nat Genet. 2015 Mar 2;47(4):338–344. doi: 10.1038/ng.3229

Figure 1.

Figure 1

Identification of novel genetic disorder and its causative gene. (a) CHOPS syndrome probands: CHOPS T254S (female with short stature, intellectual disability, chronic lung disease, obesity, brachydactyly, vertebral abnormalities, patent ductus aretriosus, horseshoe kidney and dysmorphic facial features), CHOPS T254A (male with short stature, intellectual disability, tracheomalacia, subglottic and tracheal stenosis, obesity, brachydactyly, cervical vertebrae abnormalities, ventricular septal defect and patent ductus arteriosus, cryptorchidism, hearing loss and dysmorphic facial features) and CHOPS R258W (female with short stature, intellectual disability, laryngomalacia, narrow oropharynx, brachydactyly, kyphoscoliosis, patent ductus arteriosus, ventricular septal defect, cataracts and dysmorphic facial features). Written permission to publish photograph was obtained from the parents of CHOPS syndrome probands. (b) AFF4 protein structure demonstrating the location of de novo missense mutations identified in 3 probands. Missense mutations altered highly conserved amino acid residues. NHD: N-terminal homology domain, TAD: transactivation domain, NLS: nuclear localization signal, NoLS: nucleolar localization signals, CHD: C-terminal homology domain.