ArticleMolecular genetics & genomic medicine2022
A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.
- Multiomics Data Synthesis of FAM83H in Amelogenesis Imperfecta.International dental journal · 2026Pooled it
- Performance comparison of four exome capture platforms on DNBSEQ-Series high throughput sequencer.BMC genomics · 2025Article
- Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing.Molecular genetics & genomic medicine · 2025Article
- [Frameshift mutation inBeijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2025Article
- Surgical, orthodontic, and prosthetic management of amelogenesis imperfecta associated with severe open bite: a case report.Journal of medicine and life · 2024Article
- Interdisciplinary full mouth rehabilitation of a patient with amelogenesis imperfecta from childhood to young adult-hood: A 12-year case report.Clinical case reports · 2024Article
- Tooth ultrastructure changes induced by a nonsense mutation in the FAM83H gene: insights into the diversity of amelogenesis imperfecta.Clinical oral investigations · 2023Article
- A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance.Molecular genetics & genomic medicine · 2022Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAmelogenesis 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.
methodsWhole-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.
resultsWe 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, the clinical manifestations of each of the six individuals carrying this variant were different, with one carrier appearing to be completely asymptomatic for AI.
conclusionOur findings expand the variant spectrum for FAM83H and the phenotypic spectrum for FAM83H-associated AI and suggest that FAM83H-mediated AI exhibits incomplete penetrance.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.