Validating clinical characteristic of primary failure of eruption (PFE) associated with PTH1R variants.

ABSTRACT:

Background

Primary failure of eruption (PFE) is a hereditary condition, and linkage with variants in the PTH1R gene has been demonstrated in many cases. The clinical severity and expression of PFE is variable, and the genotype-phenotype correlation remains elusive. Further, the similarity between some eruption disorders that are not associated with PTH1R alterations is striking. To better understand the genotype-phenotype correlation, we examined the relationship between the eruption phenotype and PTH1R genotype in 44 patients with suspected PFE and 27 unaffected relatives. Sanger sequencing was employed to analyze carefully selected PFE patients. Potential pathogenicity of variants was evaluated against multiple genetic databases for function prediction and frequency information.<

SUBMITTER: Grippaudo C 

PROVIDER: S-EPMC8666410 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature