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Fig. 1 Photographs and pedigree of the patient carrying the c.1609G>T, p.(Gly537*) variant in ZYG11B. (a–c) Photographs showed the proband at infant stage (a) and at 15 years (b and c). (d) X‐ray imaging of patient vertebrae showing vertebral fusion of hypoplastic C7‐D1 vertebrae (white bracket). (e) Enlarged of C7‐D1 vertebrae. (f) Family tree and electrophoregrams showing the de novo heterozygous nonsense variant in the proband. Sequencing of RT‐PCR amplicons revealed that the transcript escapes to nonsense‐mediated RNA decay
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