X-Linked Spondyloepiphyseal Dysplasia Tarda: A Novel SEDL Mutation in a Jewish Ashkenazi Family and Clinical Intervention Considerations

Udy Bar-Yosef, Eric Ohana, Eli Hershkovitz, Sarit Perlmuter, Rivka Ofir, Ohad S. Birk

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

X-linked spondyloepiphyseal dysplasia tarda (SEDT; MIM 313400) is a late onset progressive skeletal disorder, which manifests in childhood and is characterized by disproportionate short stature with a short trunk, barrel chest and absence of systemic complications. We found a single-nucleotide deletion in position 613 of the SEDL gene in two brothers of Jewish-Ashkenazi ancestry afflicted with the disease. This is the first description of SEDL mutations in a Jewish family. Following this finding, an eight-month old second cousin of the brothers, who had yet no clinical or radiological signs of the disease, was found to carry the deletion. Another relative, 24-years old, carrying the same mutation was 1.61 m tall and had only minimal signs of the disease. These findings raise the dilemma of pre-natal counseling in SEDL and the need for exploring means of early intervention in presymptomatic cases.

Original languageEnglish
Pages (from-to)45-48
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume125 A
Issue number1
DOIs
StatePublished - 15 Feb 2004

Keywords

  • Ashkenazi
  • Jewish
  • Mutation
  • SEDL
  • Spondyloepiphyseal dysplasia tarda
  • X-linked

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