ArticleEuropean journal of human genetics : EJHG2014
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 69 citations in OpenAlex.
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Localizations of Laminin Chains Suggest Their Multifaceted Functions in Mouse Tooth Development.International journal of molecular sciences · 2025Article
- HeterozygousJournal of medical genetics · 2024Article
- A novelJournal of dental sciences · 2024Article
- Article
- Phenotypic variability in LAMA3-associated amelogenesis imperfecta.Oral diseases · 2023Article
- RecessiveJournal of personalized medicine · 2023Article
- The implication of holocytochrome c synthase mutation in Korean familial hypoplastic amelogenesis imperfecta.Clinical oral investigations · 2022Article
- Recessive Mutations inJournal of dental research · 2022Article
- Rare compound heterozygous variants ofFrontiers in physiology · 2022Article
- Translational Attenuation by an Intron Retention in the 5' UTR ofBiomedicines · 2021Article
- A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.BMC medical genetics · 2020Article
- Multiple Skin Squamous Cell Carcinomas in Junctional Epidermolysis Bullosa Due to Altered Laminin-332 Function.International journal of molecular sciences · 2020Article
- Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta.Journal of dental research · 2019Article
- Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta.Clinical oral investigations · 2019Article
- Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders.International journal of oral science · 2018Article
- Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.Human genetics · 2018Article
- Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.Journal of dental research · 2018Article
- Novel FAM83H mutations in patients with amelogenesis imperfecta.Scientific reports · 2017Article
- DENTAL ENAMEL FORMATION AND IMPLICATIONS FOR ORAL HEALTH AND DISEASE.Physiological reviews · 2017Review
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6 authors at 1 institution in 1 country.
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Abstract
The conventional approach to identifying the defective gene in a family with an inherited disease is to find the disease locus through family studies. However, the rapid development and decreasing cost of next generation sequencing facilitates a more direct approach. Here, we report the identification of a frameshift mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta (AI). Whole-exome sequencing of three affected family members and subsequent filtering of shared variants, without prior genetic linkage, sufficed to identify the pathogenic variant. Simultaneous analysis of multiple family members confirms segregation, enhancing the power to filter the genetic variation found and leading to rapid identification of the pathogenic variant. LAMB3 encodes a subunit of Laminin-5, one of a family of basement membrane proteins with essential functions in cell growth, movement and adhesion. Homozygous LAMB3 mutations cause junctional epidermolysis bullosa (JEB) and enamel defects are seen in JEB cases. However, to our knowledge, this is the first report of dominant AI due to a LAMB3 mutation in the absence of JEB.
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