ENAM mutations and digenic inheritance.

ABSTRACT:

Background

ENAM mutations cause autosomal dominant or recessive amelogenesis imperfecta (AI) and show a dose effect: enamel malformations are more severe or only penetrant when both ENAM alleles are defective.

Methods

Whole exome sequences of recruited AI probands were initially screened for mutations in known AI candidate genes. Sanger sequencing was used to confirm sequence variations and their segregation with the disease phenotype. The co-occurrence of ENAM and LAMA3 mutations in one family raised the possibility of digenic inheritance. Enamel formed in Enam^+/+ Ambn^+/+ , Enam^+/- , Ambn^+/- , and Enam^+/- Ambn^+/- mice was characterized by dissection and backscattered scanning electron microscopy (bSEM).

Re

SUBMITTER: Zhang H 

PROVIDER: S-EPMC6785452 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature