De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family.

[dentinogenesis imperfecta]

Dentinogenesis imperfecta (DGI ) type II is one of the most common dominantly inherited dentin defects , in which both the primary and permanent teeth are affected . Here , we report a Japanese family with autosomal-dominant DGI type II , including both molecular genetic defects and pathogenesis with histological analysis . Mutation analysis revealed a mutation (c .53 T >A , p .V 18 D , g .1192 T >A ) involving the second nucleotide of the first codon within exon 3 of the dentin sialophosphoprotein (DSPP ) gene . This mutation has previously been reported in a Korean family . Thus far , 24 allelic DSPP mutations have been reported , and this is the seventh mutation involving the DSPP V 18 residue . Among those , only one other was shown to be caused by a de novo mutation , and that mutation also affected the V 18 amino acid residue . The DSPP V 18 residue is highly conserved among other mammalian species . These findings thus suggest that the V 18 amino acid might be a sensitive mutational hot spot , playing a critical role in the pathogenesis of DGI .

Diseases
Validation

Diseases presenting "and that mutation also affected the v18 amino acid residue" symptom

dentinogenesis imperfecta

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