PMC5966571_01
Syndactylies and contraction of the hands and feet. (A) Both sides of the hands; (B) Severe syndactyly of toes.
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F1
Specific symptoms of this AS were as follows: (1) syndactylies and contraction of the hands (Figure 1A) and feet (Figure 1B); (2) craniosynostosis, midfacial retrusion, steep wide forehead, larger head circumference, marked depression of the nasal bridge, short and wide nose and proptosis (Figure 2A); (3) the ears were mildly low compared with normal children, and there was no cleft lip and palate (Figure 2B).
Head features of the Apert syndrome patient. (A) Craniosynostosis, midfacial retrusion, steep wide forehead, larger head circumference, marked depression of the nasal bridge, short and wide nose and proptosis could be found obviously; (B) Ears were mildly low compared with normal children.
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F2
Specific symptoms of this AS were as follows: (1) syndactylies and contraction of the hands (Figure 1A) and feet (Figure 1B); (2) craniosynostosis, midfacial retrusion, steep wide forehead, larger head circumference, marked depression of the nasal bridge, short and wide nose and proptosis (Figure 2A); (3) the ears were mildly low compared with normal children, and there was no cleft lip and palate (Figure 2B).
Mutation analysis of the Apert syndrome patient and his parents. (A) A mutation in the sequence of exon 7 was detected: p.Pro253Arg (P253R) 758 C > G; (B) The sequence of exon 7 of his mother and no mutation was detected; (C) The sequence of exon 7 of his father, as well there was no mutation was detected.
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PMC5966571_01_fgene-09-00181-g003.jpg
F3
Specific symptoms of this AS were as follows: (1) syndactylies and contraction of the hands (Figure 1A) and feet (Figure 1B); (2) craniosynostosis, midfacial retrusion, steep wide forehead, larger head circumference, marked depression of the nasal bridge, short and wide nose and proptosis (Figure 2A); (3) the ears were mildly low compared with normal children, and there was no cleft lip and palate (Figure 2B). Amplification of Exon 7 and Exon 9 by polymerase chain reaction (PCR), and PCR products were purified after agarose gel electrophoresis, then DNA sequence analysis was performed on the ABI3130 sequencer to determine FGFR2 gene mutations. As a result, the C.758C > G mutation in the coding region of exon 7 of the FGFR2 gene in the patient was confirmed (Figure 3A). A C-to-G transversion at position 758 resulting in a proline-to-arginine substitution at codon 253 in the FGFR2 protein (p.P253R). However, none of the mother and the father of this patient had mutations at this site (Figures 3B,C), indicating that the mutation of this patient was spontaneous and not from parents.