Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Noor, A; Windpassinger, C; Vitcu, I; Orlic, M; Arshad Rafiq, M; Khalid, M; Nasir Malik, M; Ayub, M; Alman, B; Vincent, JB.
Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.
Am J Hum Genet. 2009; 84(4): 519-523.
Doi: 10.1016/j.ajhg.2009.03.007
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
- Co-Autor*innen der Med Uni Graz
- Windpassinger Christian
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Scite (citation analytics):
- Abstract:
- We have identified a consanguineous Pakistani family where oligodontia is inherited along with short stature in an 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Anodontia - genetics Anodontia - metabolism Anodontia - pathology
- Base Sequence -
- Body Height - genetics
- Bone Density - genetics
- Bone Development - genetics
- Chromosomes, Human, Pair 11 - genetics
- Codon, Nonsense -
- Consanguinity -
- DNA Primers - genetics
- Female -
- Heterozygote -
- Homozygote -
- Humans -
- Latent TGF-beta Binding Proteins - genetics
- Male -
- Oligonucleotide Array Sequence Analysis -
- Pakistan -
- Pedigree -
- Phenotype -
- RNA, Messenger - genetics RNA, Messenger - metabolism