CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum
Hyperparathyroidism-jaw tumour (HPT-JT) syndrome is a rare autosomal dominant cause of benign and malignant parathyroid tumours, ossifying jaw tumours, various cystic and neoplastic renal abnormalities and benign and malignant uterine tumours. Disease-causing mutations have been localised in the tum...
Gespeichert in:
| Hauptverfasser: | , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
Sept 2011
|
| In: |
European journal of endocrinology
Year: 2011, Jahrgang: 165, Heft: 3, Pages: 477-483 |
| ISSN: | 1479-683X |
| DOI: | 10.1530/EJE-11-0003 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1530/EJE-11-0003 Verlag, Volltext: http://www.eje-online.org/content/165/3/477.abstract 
|
| Verfasserangaben: | Karin Frank-Raue, Christine Haag, Egbert Schulze, Roger Keuser, Friedhelm Raue, Henning Dralle, Kerstin Lorenz |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 671658360 | ||
| 003 | DE-627 | ||
| 005 | 20250716203742.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 111108s2011 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1530/EJE-11-0003 |2 doi | |
| 035 | |a (DE-627)671658360 | ||
| 035 | |a (DE-576)9671658369 | ||
| 035 | |a (DE-599)GBV671658360 | ||
| 035 | |a (OCoLC)1528005616 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 245 | 0 | 0 | |a CDC73-related hereditary hyperparathyroidism |b five new mutations and the clinical spectrum |c Karin Frank-Raue, Christine Haag, Egbert Schulze, Roger Keuser, Friedhelm Raue, Henning Dralle, Kerstin Lorenz |
| 264 | 1 | |c Sept 2011 | |
| 300 | |a 7 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 15.04.2025 | ||
| 520 | |a Hyperparathyroidism-jaw tumour (HPT-JT) syndrome is a rare autosomal dominant cause of benign and malignant parathyroid tumours, ossifying jaw tumours, various cystic and neoplastic renal abnormalities and benign and malignant uterine tumours. Disease-causing mutations have been localised in the tumour suppressor gene CDC73. There is limited information available on the mutations, and resulting phenotypes and long-term follow-up data are especially scarce.We analysed the clinical data from 16 patients (including three families) carrying mutations in the CDC73 gene. We describe five new mutations/gene variants, the corresponding phenotypes of these carriers and the long-term follow-up.The 16 patients were evaluated at an endocrine outpatient clinic and at a surgical department. DNA samples were obtained for sequence analysis of the CDC73 gene.Clinical features of HPT-JT syndrome were detected in 13 of the 15 carriers with germline CDC73 mutations. The major features were benign (n=7; 47%) or cancerous (n=3; 20%) HPT-JT was present in eight cases (53%). Most patients had severe hypercalcaemia, and median serum calcium levels were 3.36mmol/l. A patient with non-secretory parathyroid carcinoma was included. HPT was diagnosed at a median age of 28.5 years. Mutational analysis of the CDC73 gene identified eight sequence changes, three of them have been reported previously, whereas five are novel: c.1346delG, c.88_94delTTCTCCT, the non-coding variants, c.307+5G>T and c.424−5T>C and c.*12C>A of unknown significance.This study significantly increases the information available on the mutations and phenotypes of HPT-JT syndrome. | ||
| 700 | 1 | |a Frank-Raue, Karin |e VerfasserIn |0 (DE-588)1094920584 |0 (DE-627)85537957X |0 (DE-576)168566591 |4 aut | |
| 700 | 1 | |a Haag, Christine |e VerfasserIn |4 aut | |
| 700 | 1 | |a Schulze, Egbert |e VerfasserIn |4 aut | |
| 700 | 1 | |a Keuser, Roger |e VerfasserIn |4 aut | |
| 700 | 1 | |a Raue, Friedhelm |e VerfasserIn |0 (DE-588)1084837749 |0 (DE-627)848756681 |0 (DE-576)169747719 |4 aut | |
| 700 | 1 | |a Dralle, Henning |d 1950- |e VerfasserIn |0 (DE-588)13179423X |0 (DE-627)51396441X |0 (DE-576)298753529 |4 aut | |
| 700 | 1 | |a Lorenz, Kerstin |d 1966- |e VerfasserIn |0 (DE-588)120021781 |0 (DE-627)080391214 |0 (DE-576)291999751 |4 aut | |
| 773 | 0 | 8 | |i In |t European journal of endocrinology |d Oxford : Oxford University Press, 1994 |g 165(2011), 3 vom: Sept., Seite 477-483 |h Online-Ressource |w (DE-627)30151741X |w (DE-600)1485160-X |w (DE-576)079421466 |x 1479-683X |7 nnas |a CDC73-related hereditary hyperparathyroidism five new mutations and the clinical spectrum |
| 773 | 1 | 8 | |g volume:165 |g year:2011 |g number:3 |g month:09 |g pages:477-483 |g extent:7 |a CDC73-related hereditary hyperparathyroidism five new mutations and the clinical spectrum |
| 856 | 4 | 0 | |u https://doi.org/10.1530/EJE-11-0003 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u http://www.eje-online.org/content/165/3/477.abstract |x Verlag |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20250415 | ||
| 993 | |a Article | ||
| 994 | |a 2011 | ||
| 998 | |g 1084837749 |a Raue, Friedhelm |m 1084837749:Raue, Friedhelm |d 50000 |e 50000PR1084837749 |k 0/50000/ |p 5 | ||
| 998 | |g 1094920584 |a Frank-Raue, Karin |m 1094920584:Frank-Raue, Karin |d 50000 |e 50000PF1094920584 |k 0/50000/ |p 1 |x j | ||
| 999 | |a KXP-PPN671658360 |e 4705525981 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"origin":[{"dateIssuedDisp":"Sept 2011","dateIssuedKey":"2011"}],"name":{"displayForm":["Karin Frank-Raue, Christine Haag, Egbert Schulze, Roger Keuser, Friedhelm Raue, Henning Dralle, Kerstin Lorenz"]},"relHost":[{"origin":[{"publisherPlace":"Oxford ; Bristol","dateIssuedKey":"1994","publisher":"Oxford University Press ; BioScientifica Ltd.","dateIssuedDisp":"1994-"}],"disp":"CDC73-related hereditary hyperparathyroidism five new mutations and the clinical spectrumEuropean journal of endocrinology","pubHistory":["Volume 130, issue 1 (Jan 1994)-"],"part":{"pages":"477-483","volume":"165","text":"165(2011), 3 vom: Sept., Seite 477-483","issue":"3","extent":"7","year":"2011"},"language":["eng"],"id":{"eki":["30151741X"],"zdb":["1485160-X"],"issn":["1479-683X"]},"physDesc":[{"extent":"Online-Ressource"}],"recId":"30151741X","titleAlt":[{"title":"EJE"},{"title":"European journal of endocrinology"},{"title":"official journal of the European Federation of Endocrine Societies"},{"title":"EJE"}],"note":["Gesehen am 21.08.25"],"title":[{"title":"European journal of endocrinology","subtitle":"EJE : clinical and translational endocrinology from around the globe","title_sort":"European journal of endocrinology"}],"type":{"media":"Online-Ressource","bibl":"periodical"}}],"id":{"doi":["10.1530/EJE-11-0003"],"eki":["671658360"]},"language":["eng"],"physDesc":[{"extent":"7 S."}],"recId":"671658360","note":["Gesehen am 15.04.2025"],"person":[{"roleDisplay":"VerfasserIn","display":"Frank-Raue, Karin","family":"Frank-Raue","given":"Karin","role":"aut"},{"role":"aut","given":"Christine","display":"Haag, Christine","family":"Haag","roleDisplay":"VerfasserIn"},{"given":"Egbert","role":"aut","display":"Schulze, Egbert","family":"Schulze","roleDisplay":"VerfasserIn"},{"display":"Keuser, Roger","family":"Keuser","roleDisplay":"VerfasserIn","role":"aut","given":"Roger"},{"given":"Friedhelm","role":"aut","roleDisplay":"VerfasserIn","family":"Raue","display":"Raue, Friedhelm"},{"roleDisplay":"VerfasserIn","family":"Dralle","display":"Dralle, Henning","given":"Henning","role":"aut"},{"family":"Lorenz","display":"Lorenz, Kerstin","roleDisplay":"VerfasserIn","role":"aut","given":"Kerstin"}],"title":[{"subtitle":"five new mutations and the clinical spectrum","title":"CDC73-related hereditary hyperparathyroidism","title_sort":"CDC73-related hereditary hyperparathyroidism"}],"type":{"media":"Online-Ressource","bibl":"article-journal"}} | ||
| SRT | |a FRANKRAUEKCDC73RELAT2011 | ||