Amelogenesis imperfecta
Gene: LTBP3Leaving the mode of inheritance as Biallelic. Cases reporting a dental phenotype have all had biallelic variants.
Monoallelic cases have also been reported with geleophysic dysplasia and acromelic dysplasia phenotypes and therefore the mode of inheritance on the skeletal dysplasia panel covers both mode of inheritance.Created: 2 Mar 2022, 6:02 p.m. | Last Modified: 2 Mar 2022, 6:03 p.m.
Panel Version: 2.16
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P for Platyspondyly with amelogenesis imperfecta. At least 7 variants reported in at least 6 cases of Dental anomalies and short stature 601216.Created: 8 Jan 2018, 12:52 p.m.
Comment on phenotypes: Monoallelic variants reported in Geleophysic dysplasia 3 617809Created: 8 Jan 2018, 12:52 p.m.
Comment on mode of inheritance: Monoallelic variants associated with Geleophysic dysplasia 3 617809Created: 8 Jan 2018, 12:44 p.m.
Comment on list classification: Updated rating from Red to Green, awaiting external review. LTBP3 is included in the 'prior genetic testing' inclusion list and features on the UKGTN 21-gene AI panel. Confirmed DD-G2P gene for 'PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA' and sufficient cases (>3) to support causation + mouse model reported in PMID:25669657.Created: 19 Oct 2017, 11:11 a.m.
Comment on mode of inheritance: Biallelic mode of inheritance supported by OMIM and DD-G2P.Created: 19 Oct 2017, 11:09 a.m.
Comment on publications: PMID:28084688 present a mouse model with Ltbp3-/- mice presenting with unique craniofacial malformations and reductions in enamel formation.Created: 19 Oct 2017, 11:08 a.m.
PMID:25669657 (2015) report 4 families (3 consanguineous) from different ethnicities (Turkey, French caucasian, Brazil, Pakistan) characterized by significant short stature (platyspondyly/brachyolmia) and hypoplastic amelogenesis imperfecta (AI) with almost absent enamel. WES resulted in the identification of recessive variants including deletion, nonsense and splice variants in the LTBP3 gene. All variants segregated with the disease phenotype and were absent in EVS and 1000 genomes catalogs. PMID:25669657 also generated Ltbp3-/- mice with enamel defects.
Created: 19 Oct 2017, 11:06 a.m.
Publications for gene: LTBP3 were set to 25669657; 28084688
Phenotypes for gene: LTBP3 were changed from Dental anomalies and short stature, 601216; Amelogenesis Imperfecta; syndromic AI with brachyolmia to Dental anomalies and short stature, OMIM:601216; Amelogenesis Imperfecta; syndromic AI with brachyolmia
This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith
This gene has been classified as Green List (High Evidence).
Phenotypes for LTBP3 were set to Dental anomalies and short stature, 601216; Amelogenesis Imperfecta; syndromic AI with brachyolmia
Mode of inheritance for LTBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Mode of inheritance for LTBP3 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for LTBP3 were set to Dental anomalies and short stature, 601216; Amelogenesis Imperfecta; syndromic AI with brachyolmia
Publications for LTBP3 were set to 25669657; 28084688
LTBP3 was added to Amelogenesis Imperfectapanel. Source: UKGTN
LTBP3 was added to Amelogenesis Imperfectapanel. Source: Eligibility statement prior genetic testing
LTBP3 was added to Amelogenesis Imperfectapanel. Sources: Other
LTBP3 was created by rfoulger