Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification


Urel-Demir G. , Simsek-Kiper P. O. , AKGÜN-DOĞAN O. , GÖÇMEN R. , WANG Z., MATSUMOTO N., ...Daha Fazla

Journal of Human Genetics, cilt.63, ss.1003-1007, 2018 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 63 Konu: 9
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1038/s10038-018-0473-4
  • Dergi Adı: Journal of Human Genetics
  • Sayfa Sayıları: ss.1003-1007

Özet

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.