A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance.

ABSTRACT:

Background

Amelogenesis imperfecta (AI) is known to be a monogenic genetic disease caused by a variety of genes demonstrating a wide spectrum of penetrance. FAM83H is reported to be involved in AI: however, whether FAM83H causes AI with incomplete penetrance is unclear.

Methods

Whole-exome sequencing was performed on two patients with AI, and putative disease-related variants were validated by Sanger sequencing. Bioinformatic and in vitro functional analyses were performed to functionally characterize the identified disease-causing variants.

Results

We identified a novel heterozygous nonsense variant of FAM83H (NM_198488: c.1975G > T, p.Glu659Ter); in vitro functional analysis showed that this mutant produced mislocalized proteins and was deleterious. Surprisingly, th

SUBMITTER: Bai RQ 

PROVIDER: S-EPMC9000937 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature