Article
Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysis.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 29 Oct 2024
Calder Alistair D, Allgrove Jeremy, Höppner Jakob, Cheung Moira, Alexander Saji, Garagnani Lorenzo, Thakker Rajesh, Jüppner Harald, Gardella Thomas J, Holder-Espinasse Muriel
Abstract excerpt
We report on 2 patients of East African ancestry with the same novel homozygous variant in the parathyroid hormone receptor type 1 (PTH1R). Both patients shared skeletal features, including brachydactyly, extensive metacarpal pseudo-epiphyses, elongated cone-shaped epiphyses, ischiopubic hypoplasia, and deficient sacral ossification, suggestive of Eiken syndrome. Strikingly, both patients exhibited clinically...
Topics
- Child
- Female
- Humans
- Male
- HEK293 Cells
- Mutation
- Parathyroid Hormone
- Receptor, Parathyroid Hormone, Type 1
- Syndrome