Amelogenesis imperfecta
Gene: PLXNB2
PMID: 38458752 Smith et al. (in press) report 8 patients in 6 families with rare biallelic pathogenic variants in PLXNB2 as a cause of a new autosomal recessive, phenotypically diverse syndrome with AI and sensorineural hearing loss as core features. Intellectual disability, ocular disease, ear developmental abnormalities and lymphoedema were also present in multiple cases.
Sources: Literature, Expert Review
Personal communication with Roland Friedel and Christian Junquiera-Alves regarding their findings in their Plxnb2-/- mouse model after publication of human patients with PLXNB2 variants: "We had made also initial observations in the PB2 KO mouse on cochlear defects and tooth malformations that looked interesting, but we did not follow up as I focused on cerebellar development. Now these findings look in retrospect much more exciting considering your data."Created: 2 May 2024, 1:54 p.m. | Last Modified: 2 May 2024, 1:58 p.m.
Panel Version: 3.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amelogenesis imperfecta; sensorineural hearing loss
Publications
gene: PLXNB2 was added gene: PLXNB2 was added to Amelogenesis imperfecta. Sources: Literature,Expert Review Mode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLXNB2 were set to PMID: 38458752 Phenotypes for gene: PLXNB2 were set to Amelogenesis imperfecta; sensorineural hearing loss Penetrance for gene: PLXNB2 were set to unknown Review for gene: PLXNB2 was set to GREEN