Document Detail


Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.
MedLine Citation:
PMID:  23950054     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Gianfranco Savoldi; Claudia Izzi; Marino Signorelli; Maria Pia Bondioni; Chiara Romani; Gaetana Lanzi; Daniele Moratto; Lucio Verdoni; Moira Pinotti; Federico Prefumo; Andrea Superti-Furga; Alba Pilotta
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2013-08-15
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  161A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2013 Oct 
Date Detail:
Created Date:  2013-09-30     Completed Date:  2014-05-15     Revised Date:  2014-09-03    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2614-9     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 Wiley Periodicals, Inc.
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MeSH Terms
Descriptor/Qualifier:
Adult
Bone and Bones / pathology,  radiography
Female
Humans
Infant, Newborn
Mutation, Missense*
Osteochondrodysplasias / diagnosis*,  genetics*
Pregnancy
Receptor, Parathyroid Hormone, Type 1 / genetics*
Ultrasonography, Prenatal
Chemical
Reg. No./Substance:
0/PTH1R protein, human; 0/Receptor, Parathyroid Hormone, Type 1

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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