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. Author manuscript; available in PMC: 2011 Jul 4.
Published in final edited form as: Nature. 2010 Aug 22;467(7312):207–210. doi: 10.1038/nature09327

Fig. 1. Identification of a 4 base pair deletion in the WDR62 gene in a family with microcephaly and pachygria.

Fig. 1

a-d, Coronal (a) and axial (c) MR images of a control subject as compared to NG 26-1 (b, d) confirms the clinical diagnosis of microcephaly and shows a diffusely thickened cortex, an indistinct gray-white junction, pachgyria and underoperculization. All images are T2 weighted (photographically inverted). Scale bars in centimeters are shown. e, A four base-pair deletion (red box) in the WDR62 is identified through exome sequencing (WT: wild type). f, Sanger sequencing confirms the deleted bases (in green). The altered amino acid sequence (starting at position 1402) leading to a premature stop-codon (X) is shown in red.