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Acrodysostosis with multiple hormone resistance

MedGen UID:
957516
•Concept ID:
CN274488
•
Disease or Syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Orphanet: ORPHA280651

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcrodysostosis with multiple hormone resistance

Recent clinical studies

Etiology

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.
Michot C, Le Goff C, Blair E, Blanchet P, Capri Y, Gilbert-Dussardier B, Goldenberg A, Henderson A, Isidor B, Kayserili H, Kinning E, Le Merrer M, Lyonnet S, Odent S, Simsek-Kiper PO, Quelin C, Savarirayan R, Simon M, Splitt M, Verhagen JMA, Verloes A, Munnich A, Baujat G, Cormier-Daire V
Eur J Hum Genet 2018 Nov;26(11):1611-1622. Epub 2018 Jul 13 doi: 10.1038/s41431-018-0135-1. PMID: 30006632Free PMC Article
Multiple hormone resistance and alterations of G-protein-coupled receptors signaling.
Mantovani G, Elli FM
Best Pract Res Clin Endocrinol Metab 2018 Apr;32(2):141-154. Epub 2018 Jan 31 doi: 10.1016/j.beem.2018.01.002. PMID: 29678282
The first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosis.
Li N, Nie M, Li M, Jiang Y, Xing X, Wang O, Li C, Xia W
Int J Mol Sci 2014 Jul 29;15(8):13267-74. doi: 10.3390/ijms150813267. PMID: 25075981Free PMC Article

Diagnosis

KBG syndrome presenting with brachydactyly type E.
Libianto R, Wu KH, Devery S, Eisman JA, Center JR
Bone 2019 Jun;123:18-22. Epub 2019 Mar 12 doi: 10.1016/j.bone.2019.03.012. PMID: 30877071
Multiple hormone resistance and alterations of G-protein-coupled receptors signaling.
Mantovani G, Elli FM
Best Pract Res Clin Endocrinol Metab 2018 Apr;32(2):141-154. Epub 2018 Jan 31 doi: 10.1016/j.beem.2018.01.002. PMID: 29678282
Multiple hormonal resistances: Diagnosis, evaluation and therapy.
Linglart A, Silve C, Rothenbuhler A
Ann Endocrinol (Paris) 2015 May;76(2):98-100. Epub 2015 Apr 23 doi: 10.1016/j.ando.2015.03.029. PMID: 25913526
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
Linglart A, Fryssira H, Hiort O, Holterhus PM, Perez de Nanclares G, Argente J, Heinrichs C, Kuechler A, Mantovani G, Leheup B, Wicart P, Chassot V, Schmidt D, Rubio-Cabezas Ó, Richter-Unruh A, Berrade S, Pereda A, Boros E, Muñoz-Calvo MT, Castori M, Gunes Y, Bertrand G, Bougnères P, Clauser E, Silve C
J Clin Endocrinol Metab 2012 Dec;97(12):E2328-38. Epub 2012 Oct 5 doi: 10.1210/jc.2012-2326. PMID: 23043190
Exome sequencing identifies PDE4D mutations in acrodysostosis.
Lee H, Graham JM Jr, Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, Cohn DH
Am J Hum Genet 2012 Apr 6;90(4):746-51. Epub 2012 Mar 29 doi: 10.1016/j.ajhg.2012.03.004. PMID: 22464252Free PMC Article

Therapy

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
Linglart A, Fryssira H, Hiort O, Holterhus PM, Perez de Nanclares G, Argente J, Heinrichs C, Kuechler A, Mantovani G, Leheup B, Wicart P, Chassot V, Schmidt D, Rubio-Cabezas Ó, Richter-Unruh A, Berrade S, Pereda A, Boros E, Muñoz-Calvo MT, Castori M, Gunes Y, Bertrand G, Bougnères P, Clauser E, Silve C
J Clin Endocrinol Metab 2012 Dec;97(12):E2328-38. Epub 2012 Oct 5 doi: 10.1210/jc.2012-2326. PMID: 23043190

Clinical prediction guides

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.
Michot C, Le Goff C, Blair E, Blanchet P, Capri Y, Gilbert-Dussardier B, Goldenberg A, Henderson A, Isidor B, Kayserili H, Kinning E, Le Merrer M, Lyonnet S, Odent S, Simsek-Kiper PO, Quelin C, Savarirayan R, Simon M, Splitt M, Verhagen JMA, Verloes A, Munnich A, Baujat G, Cormier-Daire V
Eur J Hum Genet 2018 Nov;26(11):1611-1622. Epub 2018 Jul 13 doi: 10.1038/s41431-018-0135-1. PMID: 30006632Free PMC Article
Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.
Rhayem Y, Le Stunff C, Abdel Khalek W, Auzan C, Bertherat J, Linglart A, Couvineau A, Silve C, Clauser E
J Biol Chem 2015 Nov 13;290(46):27816-28. Epub 2015 Sep 24 doi: 10.1074/jbc.M115.656553. PMID: 26405036Free PMC Article
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.
Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E, Guerrot AM, Flahaut P, Duncombe A, Baujat G, Lyonnet S, Thalassinos C, Nitschke P, Casanova JL, Le Merrer M, Munnich A, Cormier-Daire V
Am J Hum Genet 2012 Apr 6;90(4):740-5. Epub 2012 Mar 29 doi: 10.1016/j.ajhg.2012.03.003. PMID: 22464250Free PMC Article
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance.
Linglart A, Menguy C, Couvineau A, Auzan C, Gunes Y, Cancel M, Motte E, Pinto G, Chanson P, Bougnères P, Clauser E, Silve C
N Engl J Med 2011 Jun 9;364(23):2218-26. doi: 10.1056/NEJMoa1012717. PMID: 21651393

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    • GTR
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      Clinical tests in GTR
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