About: Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene

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About: Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	We present a male patient with neonatal severe primary hyperparathyroidism, whose manifestation was exceptionally serious for the heterozygous inactivating mutation he carried in the CASR gene. Genetic analysis revealed a heterozygous missense CASR mutation R185Q, and an approximately equal expression of the mutated and wild-type RNA in the parathyroid tissue. The mother of the child was homozygous for the wild-type allele; the father is unknown. In conclusion, this patient demonstrates how serious neonatal hyperparathyroidism can be when caused by a heterozygous mutation. This may be attributable to a combination of dominant-negative action of the mutant allele with an intrauterine foetal hyperparathyroidism developed in the mother's normocalcaemic environment, further aggravated by a putative maternal vitamin D deficiency during pregnancy. We present a male patient with neonatal severe primary hyperparathyroidism, whose manifestation was exceptionally serious for the heterozygous inactivating mutation he carried in the CASR gene. Genetic analysis revealed a heterozygous missense CASR mutation R185Q, and an approximately equal expression of the mutated and wild-type RNA in the parathyroid tissue. The mother of the child was homozygous for the wild-type allele; the father is unknown. In conclusion, this patient demonstrates how serious neonatal hyperparathyroidism can be when caused by a heterozygous mutation. This may be attributable to a combination of dominant-negative action of the mutant allele with an intrauterine foetal hyperparathyroidism developed in the mother's normocalcaemic environment, further aggravated by a putative maternal vitamin D deficiency during pregnancy. (en)
Title	Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene (en)
skos:prefLabel	Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene (en)
skos:notation	RIV/00216208:11130/09:5420!RIV10-MZ0-11130___
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MSM0021620814), Z(MSM0021620819), Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	5
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Šumník, Zdeněk Lebl, Jan Cinek, Ondřej Koloušková, Stanislava Obermannová, Barbora Fencl, Filip Dvořáková, Hana Banghová, Karolína
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku	347686
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/09:5420
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Primary hyperparathyroidism; Hypercalcaemia; Newborn; Parathyroidectomy; Bisphosphonates; calcium-sensing receptor; benign hypocalciuric hypercalcemia; autosomal-dominant hypocalcemia; functional-characterization; polymorphisms (en)
http://linked.open.../riv/klicoveSlovo	calcium-sensing receptor autosomal-dominant hypocalcemia benign hypocalciuric hypercalcemia polymorphisms Newborn functional-characterization Parathyroidectomy Bisphosphonates Hypercalcaemia Primary hyperparathyroidism
http://linked.open...odStatuVydavatele	DE - Spolková republika Německo
http://linked.open...ontrolniKodProRIV	[A0338F420E04]
http://linked.open...i/riv/nazevZdroje	European Journal of Pediatrics
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	8 (xsd:int)
http://linked.open...cetTvurcuVysledku	9 (xsd:int)
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	168
http://linked.open...iv/tvurceVysledku	Cinek, Ondřej Koloušková, Stanislava Lebl, Jan Šumník, Zdeněk Betka, Jan Obermannová, Barbora Fencl, Filip Dvořáková, Hana Marie Banghová, Karolína
http://linked.open...ain/vavai/riv/wos	000264321100009
http://linked.open...n/vavai/riv/zamer	Prevention, diagnostics and therapy of diabetes mellitus, metabolic and endocrine damage of organism Náhrada a podpora funkce některých životně důležitých orgánů Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	0340-6199
number of pages	5 (xsd:int)
http://localhost/t...ganizacniJednotka	11130

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