PMID- 10364530
OWN - NLM
STAT- MEDLINE
DCOM- 19990805
LR  - 20181113
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 65
IP  - 1
DP  - 1999 Jul
TI  - A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.
PG  - 175-82
AB  - In spondylocostal dysostosis (SD), vertebral-segmentation defects are associated 
      with rib anomalies. This results in short-trunk short stature, nonprogressive
      kyphoscoliosis, and radiological features of multiple hemivertebrae and rib
      fusions. SD can be familial, and both autosomal dominant and autosomal recessive 
      (AR) inheritance have been reported, but no genes have been identified or
      localized for nonsyndromic SD in humans. We performed genomewide scanning by
      homozygosity mapping in a large consanguineous ARSD Arab Israeli family with six 
      definitely affected members. Significant linkage was found to chromosome 19q13,
      with a LOD score of 6.9. This was confirmed in a second Pakistani family with
      three affected members, with a LOD score of 2.4. The combined-haplotype data
      identify a critical region between D19S570 and D19S908, an interval of 8.5 cM on 
      19q13.1-19q13.3. This is the first study to localize a gene for nonsyndromic SD. 
      ARSD is clinically heterogeneous and is likely to result from mutations in
      developmental genes or from regulating transcription factors. Identification of
      these genes will improve the understanding of the molecular processes
      contributing to both normal and abnormal human vertebral development.
FAU - Turnpenny, P D
AU  - Turnpenny PD
AD  - Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter EX2 5DW 
      United Kingdom. turnpenn@eurobell.co.uk
FAU - Bulman, M P
AU  - Bulman MP
FAU - Frayling, T M
AU  - Frayling TM
FAU - Abu-Nasra, T K
AU  - Abu-Nasra TK
FAU - Garrett, C
AU  - Garrett C
FAU - Hattersley, A T
AU  - Hattersley AT
FAU - Ellard, S
AU  - Ellard S
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child, Preschool
MH  - *Chromosomes, Human, Pair 19
MH  - Dysostoses/diagnostic imaging/*genetics
MH  - Female
MH  - Genes, Recessive
MH  - Genetic Markers
MH  - Genotype
MH  - Humans
MH  - Lod Score
MH  - Male
MH  - Pedigree
MH  - Radiography
MH  - Ribs/*abnormalities/diagnostic imaging
MH  - Spine/*abnormalities/diagnostic imaging
PMC - PMC1378088
EDAT- 1999/06/12 10:00
MHDA- 2000/03/21 09:00
CRDT- 1999/06/12 10:00
PHST- 1999/06/12 10:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/06/12 10:00 [entrez]
AID - S0002-9297(07)63741-0 [pii]
AID - 10.1086/302464 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Jul;65(1):175-82. doi: 10.1086/302464.