PMID- 10431248
OWN - NLM
STAT- MEDLINE
DCOM- 19990826
LR  - 20101118
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 22
IP  - 4
DP  - 1999 Aug
TI  - Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia
      tarda.
PG  - 400-4
AB  - Spondyloepiphyseal dysplasia tarda (SEDL; MIM 313400) is an X-linked recessive
      osteochondrodysplasia that occurs in approximately two of every one million
      people. This progressive skeletal disorder which manifests in childhood is
      characterized by disproportionate short stature with short neck and trunk, barrel
      chest and absence of systemic complications. Distinctive radiological signs are
      platyspondyly with hump-shaped central and posterior portions, narrow disc
      spaces, and mild to moderate epiphyseal dysplasia. The latter usually leads to
      premature secondary osteoarthritis often requiring hip arthroplasty. Obligate
      female carriers are generally clinically and radiographically indistinguishable
      from the general population, although some cases have phenotypic changes
      consistent with expression of the gene defect. The SEDL gene has been localized
      to Xp22 (refs 8,9) in the approximately 2-Mb interval between DXS16 and DXS987
      (ref. 10). Here we confirm and refine this localization to an interval of less
      than 170 kb by critical recombination events at DXS16 and AFMa124wc1 in two
      families. In one candidate gene we detected three dinucleotide deletions in three
      Australian families which effect frameshifts causing premature stop codons. The
      gene designated SEDL is transcribed as a 2.8-kb transcript in many tissues
      including fetal cartilage. SEDL encodes a 140 amino acid protein with a putative 
      role in endoplasmic reticulum (ER)-to-Golgi vesicular transport.
FAU - Gedeon, A K
AU  - Gedeon AK
AD  - Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics,
      Women's and Children's Hospital, North Adelaide, SA, Australia.
FAU - Colley, A
AU  - Colley A
FAU - Jamieson, R
AU  - Jamieson R
FAU - Thompson, E M
AU  - Thompson EM
FAU - Rogers, J
AU  - Rogers J
FAU - Sillence, D
AU  - Sillence D
FAU - Tiller, G E
AU  - Tiller GE
FAU - Mulley, J C
AU  - Mulley JC
FAU - Gecz, J
AU  - Gecz J
LA  - eng
SI  - GENBANK/AF157060
SI  - GENBANK/AF157061
SI  - GENBANK/AF157062
SI  - GENBANK/AF157063
SI  - GENBANK/AF157064
SI  - GENBANK/AF157065
SI  - GENBANK/AH008075
GR  - R55 AR45477/AR/NIAMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (Carrier Proteins)
RN  - 0 (Membrane Transport Proteins)
RN  - 0 (TRAPPC2 protein, human)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Carrier Proteins/*genetics
MH  - Female
MH  - Genetic Linkage
MH  - Heterozygote
MH  - Humans
MH  - Male
MH  - *Membrane Transport Proteins
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Osteochondrodysplasias/*genetics
MH  - Pedigree
MH  - Sequence Homology, Amino Acid
MH  - Tissue Distribution
MH  - Transcription Factors
MH  - *X Chromosome
EDAT- 1999/08/04 10:00
MHDA- 2001/03/23 10:01
CRDT- 1999/08/04 10:00
PHST- 1999/08/04 10:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/08/04 10:00 [entrez]
AID - 10.1038/11976 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Aug;22(4):400-4. doi: 10.1038/11976.