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

American Journal of Medical Genetics, Part A

Volumn 161, Issue 10, 2013, Pages 2614-2619

  Savoldi, Gianfranco ^a   Izzi, Claudia ^b   Signorelli, Marino ^b   Bondioni, Maria Pia ^b   Romani, Chiara ^b   Lanzi, Gaetana ^a   Moratto, Daniele ^a   Verdoni, Lucio ^b   Pinotti, Moira ^b   Prefumo, Federico ^b   Superti Furga, Andrea ^c   Pilotta, Alba ^b  

^a Laboratory of Genetic Disorders of Childhood   (Italy)

^b UNIVERSITY OF BRESCIA   (Italy)

^c LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

Jansen metaphyseal dysplasia; PTH PTHrP receptor; PTH1R

Indexed keywords

ADENINE; ALKALINE PHOSPHATASE; CALCIUM; ISOLEUCINE; LYSINE; PARATHYROID HORMONE RECEPTOR 1; THYMINE;

ADULT; ALKALINE PHOSPHATASE BLOOD LEVEL; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE RADIOGRAPHY; CALCIUM BLOOD LEVEL; CASE REPORT; CHROMOSOME 14; FEMALE; FETUS; FETUS ECHOGRAPHY; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HYPOPHOSPHATASIA; IN VITRO STUDY; JANSEN METAPHYSEAL DYSPLASIA; MICROGNATHIA; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MUTANT; MUTATIONAL ANALYSIS; OSTEOGENESIS IMPERFECTA; POSTNATAL CARE; PRIORITY JOURNAL; PTH1R GENE; RETROGNATHIA; RIB MALFORMATION; SKELETON MALFORMATION; UNIPARENTAL DISOMY; WILD TYPE;

JANSEN METAPHYSEAL DYSPLASIA; PTH/PTHRP RECEPTOR; PTH1R;

ADULT; BONE AND BONES; FEMALE; HUMANS; INFANT, NEWBORN; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PREGNANCY; RECEPTOR, PARATHYROID HORMONE, TYPE 1; ULTRASONOGRAPHY, PRENATAL;

EID: 84884984764     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36115     Document Type: Article

References (15)

1. Bastepe M, Raas-Rothschild A, Silver J, Weissman I, Wientroub S, Jüppner H, Gillis D. 2004. A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. J Clin Endocrinol Metab 89:3595-3600.
2. Bertino E, Spada E, Occhi L, Coscia A, Giuliani F, Gagliardi L, Gilli G, Bona G, Fabris C, De Curtis M, Milani S. 2010. Neonatal anthropometric charts: The Italian neonatal study compared with other European studies. JPGN 51:353-361.
3. Charrow J, Poznanski AK. 1984. The Jansen type of metaphyseal chondrodysplasia: Confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult. Am J Med Genet 18:321-327.
4. Gordon SL, Varano LA, Alandete A, Maisels MJ. 1976. Jansen's metaphyseal dysostosis. Pediatrics 58:556-560.
5. Gram PB, Fleming JL, Frame B, Fine G. 1959. Metaphyseal chondrodysplasia of Jansen. J Bone Joint Surg 41A:951-959.
6. Hall CM, Offiah A, Forzano F, Lituania M, Fink M, Krakow D. 2012. Fetal and perinatal skeletal dysplasias: An Atlas of multimodality imaging. London: Radcliffe Publishing Ltd. p. 696.
7. Jansen M. 1934. Uber atypische Chondystrophie (Achondroplasie) und uber eine noch nicht beschriebene angeborene Wachstumsstorung des Knochensystems: Metaphysare dysostosis. Z Orthop Chir 61:253-286.
8. Kruse K, Schütz C. 1993. Calcium metabolism in the Jansen type of metaphyseal dysplasia. Eur J Pediatr 152:912-915.
9. Nicolini U, Todros T, Ferrazzi E, Zorzoli A, Groli C, Zucca S, Tinti A, Dodero D, Destro F, Ceccarello P, Pavoni M. 1986. Curve trasversali dell' accrescimento fetale. Minerva Ginecol 38:873-887.
10. Offiah AC, Cornette L, Hall CM. 2003. Paternal uniparental disomy 14 introducing the coat-hanger sign. Pediatr Radiol 33:509-512.
11. Romero R, Pilu G, Jeanty P, Ghidini A, Hobbins J. 1987. Skeletal dysplasias. In: Prentice Hall. Prenatal diagnosis of congenital anomalies. Norwalk, Connecticut: Appleton and Lange. pp. 320-327.
12. Schipani E, Kruse K, Jüppner H. 1995. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 268:98-100.
13. Schipani E, Langman CB, Parfitt AM, Jensen GS, Kikuchi S, Kooh SW, Cole WG, Jüppner H. 1996. Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. N Engl J Med 335:708-714.
14. Schipani E, Langman C, Hunzelman J, Le Merrer M, Loke KY, Dillon MJ, Silve C, Jüppner H. 1999. A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. J Clin Endocrinol Metab 84:3052-3057.
15. Silverthorn KG, Houston CS, Duncan BP. 1987. Murk Jansen's metaphyseal chondrodysplasia with long-term follow up. Pediatr Radiol 17:119-123.