Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.
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.
Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON M5T 1R8, Canada.
Abdul
A
Noor
Christian
C
Windpassinger
Irina
I
Vitcu
Marija
M
Orlic
Muhammad Arshad
MA
Rafiq
Mahwish
M
Khalid
Mahmood Nasir
MN
Malik
Muhammad
M
Ayub
Benjamin
B
Alman
John B
JB
Vincent
D000848:Anodontia / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D001483:Base Sequence; D001827:Body Height / Q000235:genetics; D015519:Bone Density / Q000235:genetics; D001846:Bone Development / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D018389:Codon, Nonsense; D003241:Consanguinity; D017931:DNA Primers / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D053779:Latent TGF-beta Binding Proteins / Q000235:genetics*; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010154:Pakistan; D010375:Pedigree; D010641:Phenotype; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
D018389:Codon, Nonsense; D017931:DNA Primers; C509038:LTBP3 protein, human; D053779:Latent TGF-beta Binding Proteins; D012333:RNA, Messenger