Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.

ABSTRACT:

Background

Raine syndrome (RS) is a rare autosomal recessive bone dysplasia typified by osteosclerosis and dysmorphic facies due to FAM20C mutations. Initially reported as lethal in infancy, survival is possible into adulthood. We describe the molecular analysis and clinical phenotypes of five individuals from two consanguineous Brazilian families with attenuated Raine Syndrome with previously unreported features.

Methods

The medical and dental clinical records were reviewed. Extracted deciduous and permanent teeth as well as oral soft tissues were analysed. Whole exome sequencing was undertaken and FAM20C cDNA sequenced in family 1.

Results

Family 1 included 3 siblings with hypoplastic Amelogenesis Imperfecta (AI) (inherited abnormal dental enamel formation). Mild fa

SUBMITTER: Acevedo AC 

PROVIDER: S-EPMC4422040 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature