An analysis of phenotype, genotype in selected tooth agenesis: report of two cases

doi:10.19438/j.cjoms.2022.03.017

Abstract

Abstract: PURPOSE: To explore the pathology of selective tooth agenesis. METHODS: The clinical manifestations of 2 patients were collected based on complete oral examinations, panoramic radiographs and pedigree information. Peripheral venous blood was taken from probands and their patients and DNA were extracted. Whole-exome sequencing (WES) and Sanger sequencing were performed to identify the causal gene variants. Aligned multi sequencing was conducted to predict the structure of LRP6 and LRP6 mutation. RESULTS: We discovered two probands with sporadic or heredity diagnosed selective tooth agenesis, proband 1 had a nonsense mutation (c.C1573T, p.R525X) of LRP6 and proband 2 had a frameshift mutation (c.4611delT, p.C1537fs) of LRP6. The predicting structure of LRP6 and LRP6 mutation illustrated that the mutation altered protein structure and created a premature stop codon. Aligned multi sequencing showed the LRP6 protein sequence highly conservative, suggesting that the mutation was hazardous. CONCLUSIONS: The results revealed two novel mutations of LRP6 of selective tooth agenesis which is helpful in prenatal diagnosis and genetic counseling.

Key words: Low-density lipoprotein receptor-related protein 6, Nonsense mutation, Frameshift mutation, Selected tooth agenesis

CLC Number:

R739.8

JIANG Cai-ling, YU Kang, WU Yi-qun. An analysis of phenotype, genotype in selected tooth agenesis: report of two cases[J]. China Journal of Oral and Maxillofacial Surgery, 2022, 20(3): 298-302.

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