Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family.
A 23-year-old man was diagnosed as having X-linked spondyloepiphyseal dysplasia tarda (SEDT; MIM 313400) based on his disproportionately short trunk, short stature, characteristic radiological features of the spine (posterior hump, end plate sclerosis, and disc space narrowing) and the hips (short and thick femoral necks), and positive family history. This Japanese family was found to have an intragenic deletion flanking intron 2 and exon 3 of the SEDL gene that not only included the 5' untranslated region but also the coding sequence for the first methionine through the 25th alanine. This mutation was present in the proband and his unaffected mother (a heterozygote), but not in an unaffected sister and an unaffected uncle. The nature of the mutation predicted that the SEDL protein (Sedlin) was not produced in the proband, indicating that loss of Sedlin caused SEDT.
Department of Orthopaedic Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan. ymatsui@sam.hi-ho.ne.jp
Y
Y
Matsui
N
N
Yasui
K
K
Ozono
M
M
Yamagata
H
H
Kawabata
H
H
Yoshikawa
D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D005192:Family Health; D008040:Genetic Linkage; D006801:Humans; D007564:Japan; D008297:Male; D026901:Membrane Transport Proteins; D010009:Osteochondrodysplasias / Q000209:etiology / Q000235:genetics*; D011859:Radiography; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging; D014157:Transcription Factors; D014960:X Chromosome
D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C120759:TRAPPC2 protein, human; D014157:Transcription Factors