Novel missense mutations in PAX9 causing oligodontia.

[oligodontia]

We investigated the disease-causing gene of oligodontia in Chinese families and analysed the pathogenesis of mutations of this gene that results in oligodontia .Two families with oligodontia , but of different descent and 100 unrelated healthy controls were enrolled in our study . Genomic DNA was isolated from blood samples . Mutation analysis was performed by amplifying MSX 1 and PAX 9 exons and sequencing the products . After identifying the mutations , we performed site-directed mutagenesis to generate mutated vectors . The wild-type and mutated PAX 9 vectors were then transfected separately to NIH 3 T 3 cells . Immunolocalization , electrophoretic mobility shift assay (EMSA ) and luciferase reporter assay were performed to analyse the effects of mutations on protein function .We identified two novel missense mutations , Leu 27 P ro (L 27 P ) and Ile 29 Thr (I 29 T ) in the paired-domain of PAX 9 . Analysis of homologous PAX proteins indicated that these two substitutions may affect the function of the PAX 9 protein . Results of immunofluorescence and western blot showed that the mutations did not alter the nuclear localization of PAX 9 . EMSA and luciferase reporter assays indicated that both the mutated proteins could not bind DNA or transactivate the BMP 4 promoter .Two novel missense mutations in PAX 9 have been indentified in Chinese families causing oligodontia .

Diseases
Validation

Diseases presenting "blood samples" symptom

22q11.2 deletion syndrome

acute rheumatic fever

adrenomyeloneuropathy

alpha-thalassemia

aniridia

aromatase deficiency

benign recurrent intrahepatic cholestasis

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital toxoplasmosis

cushing syndrome

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

hirschsprung disease

hodgkin lymphoma, classical

homocystinuria without methylmalonic aciduria

kallmann syndrome

oculocutaneous albinism

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

phenylketonuria

primary effusion lymphoma

scrub typhus

sneddon syndrome

systemic capillary leak syndrome

triple a syndrome

typhoid

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

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