期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 84, 期 4, 页码 519-523出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2009.03.007
关键词
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资金
- Canadian Institutes of Health Research (CIHR) Collaborative Graduate Training Program
- Centre for Addiction and Mental Health Postdoctoral Fellowship
- National Alliance for Research on Schizophrenia and Depression (NARSAD) Independent Investigator Award
We have identified a consanguineous Pakistani family where oligodontia is inherited along with short stature in all autosomal-recessive fashion. Increased bone density was present in the spine and at the base of the skull. Using high-density single-nucleotide polymorphism microarrays for homozygosity mapping, we identified a 28 Mb homozygous stretch shared between affected individuals on chromosome 11q13. Screening selected candidate genes within this region, we identified a homozygous nonsense mutation, Y774X, within LTBP3, the gene for the latent TGF-beta binding protein 3, an extracellular matrix protein believed to be required for osteoclast function.
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