Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.

Détails

ID Serval
serval:BIB_72D0D5C4D91F
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.
Périodique
American Journal of Medical Genetics. Part A
Auteur(s)
Savoldi G., Izzi C., Signorelli M., Bondioni M.P., Romani C., Lanzi G., Moratto D., Verdoni L., Pinotti M., Prefumo F., Superti-Furga A., Pilotta A.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
2013
Peer-reviewed
Oui
Volume
161
Numéro
10
Pages
2614-2619
Langue
anglais
Notes
Publication types: Journal Article
Résumé
Wave-shaped ribs were detected at prenatal ultrasound in a 20(+1) week female fetus. At birth, skeletal radiographs showed marked hypomineralization and suggested hypophosphatasia. However, elevated blood calcium and alkaline phosphatase excluded hypophosphatasia and raised the possibility of Jansen metaphyseal dysplasia. Molecular analysis of the PTH/PTHrP receptor gene (PTH1R) showed heterozygosity for a previously undescribed transversion variant (c.1373T>A), which predicts p.Ile458Lys. In vitro evaluation of wild type and mutant PTH/PTHrP receptors supported the pathogenic role of the p.Ile458Lys substitution, and confirmed the diagnosis of Jansen metaphyseal dysplasia. This disorder may present prenatally with wavy ribs and in the newborn with hypomineralization, and may therefore be confused with hypophosphatasia. The mottled metaphyseal lesions typically associated with this disease appear only in childhood.
Pubmed
Web of science
Création de la notice
16/01/2014 20:14
Dernière modification de la notice
03/03/2018 18:18
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