PMID: 9447281Aug 1, 1997Paper

Jansen-type metaphyseal chondrodysplasia: analysis of PTH/PTH-related protein receptor messenger RNA by the reverse transcriptase-polymerase chain method

Endocrine Journal
M MinagawaH Niimi

Abstract

Jansen-type metaphyseal chondrodysplasia (JMC) has both delayed ossification in long bones and usually hypercalcemia. We report a Japanese male patient with JMC who presented with rachitic signs on radiographs, hypercalcemia (13 mg/dl) and low %TRP at age 3 months (mo). Hypercalcemia was treated from age 3 mo to 11 yr. Progressive widening, splaying and fragmentation of the metaphyses have been recognized on radiographs which resulted in shortened tubular bones and consequent short stature [107 cm (-6.5 SD)] at age 13 yr. Hypercalcemia tended to normalize, and %TRP became normal at age 13 yr. Repeated measurements of serum PTH and PTH-related protein (PTHrP) levels showed that they were low or normal in the face of hypercalcemia and high urine cAMP excretion, which led us to suspect constitutive activation of the PTH/PTHrP receptor. Direct sequencing of PTH/PTHrP receptor complementary DNA from skin fibroblast cells revealed a CAC to CGC transversion yielding a strictly conserved His223 to Arg substitution found in 90% of DNA fragment in the second transmembrane domain of the receptor. This mutation created a restriction site Sphl (G/CATG/C). Direct sequencing of genomic DNA and also restriction enzyme digestion revealed hetero...Continue Reading

Citations

Jun 7, 2011·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Dutmanee SeriwatanachaiBeate Lanske
Dec 4, 2009·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Erik Kern HarringtonKathy K H Svoboda
May 23, 2018·The Journal of Clinical Endocrinology and Metabolism·Hiroshi SaitoHarald Jüppner
Apr 19, 2007·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Erik Kern HarringtonKathy K H Svoboda
Oct 6, 2000·Journal of Endocrinological Investigation·L M Calvi, E Schipani
Feb 8, 2005·Biochemical and Biophysical Research Communications·Sylvain Provot, Ernestina Schipani

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