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. 2014 Aug 5;9(8):e104163. doi: 10.1371/journal.pone.0104163

Figure 4. Novel CHRDL1 missense mutation in a patient diagnosed with MMR.

Figure 4

(A) Pedigree of Family K with megalocornea-mental retardation (MMR) syndrome. Squares, males; circles, females; diamonds, unknown gender; shaded, affected; dotted, carrier; clear, unaffected. Arrowhead indicates proband. Sequence electropherograms show the CHRDL1 missense mutation c.464G>A; p.(Cys155Tyr), which segregates in Family K. (B–C) The proband at ages 3, and 6 years, respectively, presented with bilateral megalocorneae, broad forehead, bilateral epicanthic folds, a tented upper lip, and downturned corners of the mouth. (D–E) Frontal and sides of the proband at age of 10 years.