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Published on: August 15, 2019
First characterization of LTBP3 variants in two Moroccan families with hypoplastic amelogenesis imperfecta
Falah Nouara1, Ghita Amalou2, Aymane Bouzidi2
1Genomics and Human Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco; Faculty of Dentistry of the Hassan II University of Casablanca, Morocco.
Objectives:
To decipher and improve the molecular diagnosis of Hypoplastic Amelogenesis Imperfecta in Morocco.
Design:
Using whole exome sequencing, we analyzed two Moroccan families with Hypoplastic Amelogenesis Imperfecta. The 2 patients from the first family had dental anomalies and short stature syndrome, brachyolmia and nephrocalcinosis with difference in severity, while the proband of the second family had Hypoplastic Amelogenesis Imperfecta with a suspicion of brachyolmia.
Results:
We identified two novel LTBP3 homozygous variants, the c.2495delT deletion (p.Phe832SerfsTer36) and the c.3716 G>A (p.Cys1239Tyr) missense variant, respectively. Molecular modelling and stability analyses of the missense variant disclosed a possible destabilization of the wild-type structure.
Conclusion:
Although LTBP3 variants were related to this phenotype in various populations, we report the first LTBP3 variants in the Moroccan population, in families with Hypoplastic Amelogenesis Imperfecta.
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