Clinical and Genetic Analysis of A Pedigree Affected with Amelogenesis Imperfecta

doi:10.13701/j.cnki.kqyxyj.2022.05.016

Abstract

Abstract: Objective: To explore the clinical and genetic characteristics of a Chinese pedigree affected with amelogenesis imperfecta (AI). Methods: Clinical data of the pedigree members were collected and genomic DNA were extracted from peripheral blood samples. Whole exome sequencing was used to identify mutations and confirmed by Sanger sequencing. Results: Clinical characteristics of all the affected family members found in the present study were including: all teeth with yellowish coloration, enamel with an irregular rough surface, remaining enamel was softer than normal, and the enamel density could not be distinguished from dentin, which were consistent with autosomal dominant hypocalcified AI (ADHCAI). The proband was found to carry a known nonsense mutation (c.1366C>T) in exon 5 of the FAM83H gene, causing a truncated protein (p.Gln456^*). In addation, the mutation was cosegregated among affected family members with ADHCAI phenotype but not in those that were unaffected.Conclusion: The nonsense mutation (c.1366C>T) was identified in FAM83H gene in the pedigree associated with ADHCAI, which provided a basis for molecular diagnosis and genetic counseling for this pedigree.

Key words: dentinogenesis imperfecta, hypocalcified AI, FAM83H gene, whole exome sequencing

ZHAO Tian, WANG Ningxiang, LIAO Zhuoyi, WANG Feiyang, SUN Weibin, WU Juan. Clinical and Genetic Analysis of A Pedigree Affected with Amelogenesis Imperfecta[J]. Journal of Oral Science Research, 2022, 38(5): 471-476.

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