Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, is a rare autosomal recessive disorder of the skeleton characterized by disproportionate short stature with narrow chest and dysmorphic facial features. The skeletal manifestations include platyspondyly, short flared ribs, short tubular bones with abnormal metaphyses and epiphyses, severe brachydactyly, and premature stippled calcifications in the cartilage. The abnormal calcifications are so distinctive as to point to the definitive diagnosis. However, they may be too subtle to attract diagnostic attention in infancy. Homozygous variants in DDR2 cause this disorder. We report on a 5-year-old girl with the classic phenotype of SMED, SL-AC in whom a novel homozygous nonsense mutation in DDR2 was detected using exome sequencing.
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We thank the family for participating in the study. This study is supported by KAKENHI for Scientific Research (Wakate B) (ZW, No.17K16710), RIKEN-MOST (SI), and Japan Agency For Medical Research and Development (AMED) (SI, NM, No. 17ek0109280h0001), the National Key Research and Development Program of China, RIKEN-MOST (SI, ZW, 2016YFE0128400).
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The authors declare that they have no conflict of interest.
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Ürel-Demir, G., Simsek-Kiper, P.O., Akgün-Doğan, Ö. et al. Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification. J Hum Genet 63, 1003–1007 (2018). https://doi.org/10.1038/s10038-018-0473-4