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. Author manuscript; available in PMC: 2021 Apr 22.
Published in final edited form as: Clin Genet. 2020 May 17;98(1):80–85. doi: 10.1111/cge.13756

FIGURE 1.

FIGURE 1

A, Pedigree of the present family. B, Sanger sequence chromatograms of the affected individuals (upper panel) or heterozygous carriers (lower panel) with PDCD6IP mutations. C, MRI of the proband, Sagittal T1-WI (I) shows microcephaly. Axial T1-WI and T2-WI (II, III) demonstrate a mildly simplified gyral pattern with normal cortical thickness. Axial T2-WI (IV) shows a disproportionally large cerebellum. D, Schematic representation of all 20 exons of the PDCD6IP gene. E, Known three structural and functional domains (Bro 1, V and Proline rich) of the mature PDCD6IP protein. Arrows show the position of the mutation (c.154_158dup; p.Val54Profs*18) identified in this study