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. 2016 Jul 21;99(2):501–510. doi: 10.1016/j.ajhg.2016.07.004

Figure 1.

Figure 1

Mutations in CIT Cause Primary Microcephaly

(A) Pedigrees of consanguineous families 718, 1379, and 1924. Symbols are as follows: filled, affected; empty, unaffected; circle, female; square, male; hash, deceased; B, branch.

(B) Faces (top) and axial MRI (bottom) of representative affected individuals from each family show reduced brain volume and a simplified gyral pattern, consistent with a diagnosis of MCPH.

(C) Exonic structure of CIT and the location of the identified mutations. The shorter CIT-N isoform, encoded by GenBank: NM_007174.2, lacks the N-terminal kinase domain. The longer CIT-K isoform, encoded by GenBank: NM_001206999.1, encodes the kinase domain where the CIT variants localize.

(D) Identified missense variants cluster within the kinase domain of full length CIT-K.

(E) Defective activity of the kinase domain with CIT variants. P[32] incorporation was detected in the wild-type only for histone H1 and FLAG-CIT autophosphorylation.