X-linked spondyloepiphyseal dysplasia tarda: A novelSEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations

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

• Publisher: John Wiley and Sons
• Year: 2004
• Tongue: English
• Weight: 115 KB
• Volume: 125A
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.a.20435

✦ Synopsis

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 pre‐symptomatic cases. © 2003 Wiley‐Liss, Inc.