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. Author manuscript; available in PMC: 2016 May 23.
Published in final edited form as: Nat Genet. 2015 Nov 23;48(1):36–43. doi: 10.1038/ng.3451

Figure 1. Mutations in TRAIP cause primordial dwarfism.

Figure 1

(a) Mutations identified in TRAIP. Top, schematic of TRAIP gene structure; middle, TRAIP protein structure; bottom, sequence electropherograms demonstrating (middle, right panels) homozygous nonsense mutations in Patient 1 (P1) and Patient 2 (P2) and (left) a homozygous missense mutation, Arg18Cys in Patient 3 (P3). (b) A physiochemically similar residue is present at codon 18 in all vertebrates. Sequence alignments of Homo sapiens, Pan troglodytes, Mus musculus, Gallus gallus, Xenopus tropicalis and Danio rerio using Clustal W. (c) Patients with TRAIP mutations have prenatal onset severe growth failure with disproportionate microcephaly. Birth weight (BWGT), current height (HGT) and current head circumference (OFC) plotted as z-scores (standard deviations from population mean for age and sex). 97.5% of general population will lie above the dashed line at −2 S.D. Black bars indicate mean values. (d) Cerebral cortical size is markedly reduced with simplification of gyral folding. MRI T2-weighted sagittal and axial images of P3 (age 3 years) compared with control scans of a healthy child (age 3 years 1 month). Scale bar, 2 cm. (e) Photographs of affected individuals with TRAIP mutations demonstrating facial similarities, including an elongated narrow face and micrognathia. Informed consent to publish photographs was obtained from families.