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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1016/0095-0696(80)90032-7

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1432-1203

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Haploinsufficiency of Emphasis Type="Italic"PAX9

Authors: Parimal Das David W Stockton Christopher Bauer Lisa G Shaffer Rena N D’Souza Timothy J Wright Pragna I Patel
Publish Date: 2002/03/14
Volume: 110, Issue: 4, Pages: 371-376
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Abstract

We recently identified a frameshift mutation in the PAX9 gene as the underlying cause for hypodontia involving permanent molar teeth segregating in an autosomal dominant pattern in a single large family Stockton et al 2000 Here we report a small nuclear family in which a father and his daughter are affected with severe hypodontia involving agenesis of all primary and permanent molars evidently caused by deletion of the entire PAX9 gene Hemizygosity at the PAX9 locus in the two affected individuals was initially discovered when an informative single nucleotide polymorphism identified while sequencing the gene for mutations appeared to demonstrate nonMendelian inheritance Fluorescence in situ hybridization FISH analysis with a cosmid containing the PAX9 gene yielded a signal on only one chromosome 14 homologue and confirmed the presence of a deletion encompassing the PAX9 locus Analysis of microsatellite loci in the vicinity of PAX9 delineated one breakpoint of the deletion These data in concert with FISH analysis with cosmids encompassing a 199 kb region indicated that the deletion is between ~44 kb and 100 kb PAX9 is one of two genes and the only odontogenic gene within the deletion interval thus supporting the model of haploinsufficiency for PAX9 as the underlying basis for hypodontia

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