title: X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations.
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.
authors.affiliation: Laboratory of Human Molecular Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Israel.
authors.forename: Udy
authors.initials: U
authors.lastname: Bar-Yosef
authors.forename: Eric
authors.initials: E
authors.lastname: Ohana
authors.forename: Eli
authors.initials: E
authors.lastname: Hershkovitz
authors.forename: Sarit
authors.initials: S
authors.lastname: Perlmuter
authors.forename: Rivka
authors.initials: R
authors.lastname: Ofir
authors.forename: Ohad S
authors.initials: OS
authors.lastname: Birk
mesh_terms: D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D006801:Humans; D007585:Jews / Q000235:genetics*; D008297:Male; D026901:Membrane Transport Proteins; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D010375:Pedigree; D017384:Sequence Deletion; D014157:Transcription Factors
chemical_list: D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C120759:TRAPPC2 protein, human; D014157:Transcription Factors; D004247:DNA