Figure 1.

Clinical and genetic findings in the patient. (a) A front view of the patient at 2 years of age showing the distinct facial features of a prominent forehead, narrow palpebral fissures, deep-set eyes, hypertelorism, a broad nose and malar hypoplasia. (b) Electropherograms displaying the two LARP7 mutations in the patient. The upper (c.370delG) and lower (c.641_667+25del) sequences are the sense and antisense sequences, respectively. WT, wild-type allele; MT, mutant allele. (c) A schematic representation of the 52-bp deletion (c.641_667+25del) in LARP7. The exonic and intronic sequences are indicated by capital and lower-case letters, respectively. The deleted sequences are shaded in gray. The deletion involved the splice donor site of intron 8 and was predicted to cause an exon skipping of exon 8.