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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

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

Fig. 2

The analysis of variants c.522C > T (p.D174D) and c.1675G > A (p.E559K) in MYO18B in Patient 7. A Pre-operative lateral X-ray of the cervical spine demonstrating the classic “sandwich fusion” and atlantoaxial dislocation. B Post-operative lateral X-ray of the cervical spine at the one-year follow-up demonstrating maintenance of reduction of atlantoaxial dislocation by occipito-cervical fixation consisting of six occipital screws and two C2 pedicle screws. C Conserved Domain Search was performed, and the c.1675G > A (p.E559K) variant was located in the COG5022 superfamily domain of the protein, and the variant c.522C > T (p.D174D) was located in the Glutenin_hmw superfamily domain of the protein. D, E ESE finder3.0 was used to predict the effect of the mutations

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172