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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: Genetic insights into the ‘sandwich fusion’ subtype of Klippel–Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing

Fig. 4

The analysis of variants c.1750A > G (p.M584V) and c.1213A > G (p.K405E) in FGFR2 in Patients 14 and 9. A, B Pre- and Post-operative lateral X-ray of the cervical spine demonstrating the classic “sandwich deformity” with atlantoaxial dislocation in Patient 14 and Patient 9. C, D SWISSMODEL was used to predict the effects of the mutations in FGFR2 and significant differences between the structure of the mutated and wild-type were identified, indicating structural (red square) and functional change. E Conserved Domain Search was performed, and the variant c.1750A > G (p.M584V) was located in the PTKc domain of the protein. F Multiple sequence alignments revealed that the mutation sites were highly evolutionarily conserved

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172