Identification of a Novel Variant of PDGFC Associated with Nonsyndromic Cleft Lip and Palate in a Chinese Family

Figure 2

(a) Flowchart of whole exome sequencing filtering strategy. (b) Identification of the mutation in PDGFC in two patients with NSCL/P (III-1 and II-2) and asymptomatic mother (II-1) of III-1 by the Sanger sequencing. (c) Comparison of partial amino acid sequences of PDGFC proteins in 6 animals. The location of the mutant amino acid is indicated by the red arrow. (d) The predicted three-dimensional model of PDGFC with the reference residue (glutamine) and the identified variant (histidine) at position 31.

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