A Nonsyndromic Autosomal Dominant Oligodontia with A Novel Mutation of PAX9-A Clinical and Genetic Report.
Oligodontia is congenital absence of one or more teeth which has familial abnormality and attributable to various mutations or polymorphisms of genes often associated with malformative syndromes. The present case reports a rare case of non syndromic oligodontia in an 8-year-old girl with missing 14 permanent teeth excluding third molars in mixed dentition. It is a rare finding which has not been frequently documented in Indian children. Mutations in MSX1 and PAX9 have been described in families in which inherited oligodontia characteristically involves permanent incisors, lateral incisors, premolars and molars. Our study analysed one large family with dominantly inherited oligodontia clinically and genetically. This phonotype is distinct from oligodontia phenotypes associated with mutations in PAX9. Sequencing of the PAX9 revealed a novel mutation in the paired domain of the molecule. The multiple sequence alignment and SNP analysis of the PAX9 exon 2 revealed two mutations.
Reader, Department of Pedodontics & Preventive Dentistry, Rajarajeswari Dental College and Hospital , #14 Ramohallicross Kumbalgodu, Mysore Road, Bangalore, Karnataka, India .
Umapathy
U
Thimmegowda
Professor, Department of Pedodontics & Preventive Dentistry, DA Pandu Memorial R V Dental College and Hospital , Bangalore, Karnataka, India .
Praveen
P
Prasanna
Professor and Head, Department of Pedodontics & Preventive Dentistry, DA Pandu Memorial R V Dental College and Hospital , Bangalore, Karnataka, India .
Anantharaj
A
Athimuthu
Senior Lecturer, Department of Pedodontics & Preventive Dentistry, Rajarajeswari Dental College and Hospital , #14 Ramohallicross Kumbalgodu, Mysore Road, Bangalore, Karnataka, India .
Prasanna Kumar
PK
Bhat
Senior Lecturer, Department of Oral Pathology & Microbiology, Sharavathi Dental College and Hospital , Shimoga, Karnataka, India .
Yogish
Y
Puttashamachari
MSX1; PCR; Tooth development