000070220 001__ 70220
000070220 005__ 20200117213750.0
000070220 0247_ $$2doi$$a10.1186/s12881-018-0530-z
000070220 0248_ $$2sideral$$a105477
000070220 037__ $$aART-2018-105477
000070220 041__ $$aeng
000070220 100__ $$aPereda, A.
000070220 245__ $$aWhat to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis
000070220 260__ $$c2018
000070220 5060_ $$aAccess copy available to the general public$$fUnrestricted
000070220 5203_ $$aBackground: Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright''s hereditary osteodystrophy (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, mental retardation and brachydactyly, its manifestations are somewhat variable. Indeed, some of them present with a complete phenotype, whereas others show only subtle manifestations. In addition, the features of the AHO phenotype are not specific to it and a similar phenotype is also commonly observed in other syndromes. Brachydactyly type E (BDE) is the most specific and objective feature of the AHO phenotype, and several genes have been associated with syndromic BDE in the past few years. Moreover, these syndromes have a skeletal and endocrinological phenotype that overlaps with AHO/PHP. In light of the above, we have developed an algorithm to aid in genetic testing of patients with clinical features of AHO but with no causative molecular defect at the GNAS locus. Starting with the feature of brachydactyly, this algorithm allows the differential diagnosis to be broadened and, with the addition of other clinical features, can guide genetic testing. Methods: We reviewed our series of patients (n = 23) with a clinical diagnosis of AHO and with brachydactyly type E or similar pattern, who were negative for GNAS anomalies, and classify them according to the diagnosis algorithm to finally propose and analyse the most probable gene(s) in each case. Results: A review of the clinical data for our series of patients, and subsequent analysis of the candidate gene(s), allowed detection of the underlying molecular defect in 12 out of 23 patients: five patients harboured a mutation in PRKAR1A, one in PDE4D, four in TRPS1 and two in PTHLH. Conclusions: This study confirmed that the screening of other genes implicated in syndromes with BDE and AHO or a similar phenotype is very helpful for establishing a correct genetic diagnosis for those patients who have been misdiagnosed with "AHO-like phenotype" with an unknown genetic cause, and also for better describing the characteristic and differential features of these less common syndromes.
000070220 536__ $$9info:eu-repo/grantAgreement/ES/FIS/PI13-00467
000070220 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000070220 590__ $$a1.74$$b2018
000070220 591__ $$aGENETICS & HEREDITY$$b129 / 174 = 0.741$$c2018$$dQ3$$eT3
000070220 592__ $$a0.808$$b2018
000070220 593__ $$aGenetics (clinical)$$c2018$$dQ3
000070220 593__ $$aGenetics$$c2018$$dQ3
000070220 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000070220 700__ $$aGarin, I.
000070220 700__ $$aPerez de Nanclares, G.
000070220 700__ $$aAnda, E.
000070220 700__ $$aBerrade, S.
000070220 700__ $$aRamos-Arroyo, M.A.
000070220 700__ $$aRodríguez Erdozain, R.
000070220 700__ $$aVicente, A.
000070220 700__ $$aRodriguez-Lopez, R.
000070220 700__ $$aMoreno, A.
000070220 700__ $$aGuitart, M.
000070220 700__ $$aOancea-Ionescu, R.
000070220 700__ $$aPerez Rodriguez, O.
000070220 700__ $$aMolinos Castro, S.
000070220 700__ $$aMeriño, E.
000070220 700__ $$aSalvador-Sanchis, J.L.
000070220 700__ $$aLópez Mondejar, P.
000070220 700__ $$aZapico, M.
000070220 700__ $$aPalomo, E.
000070220 700__ $$aRozas Moreno, P.
000070220 700__ $$aAleixandre-Blanquer, F.
000070220 700__ $$aArgente Oliver, J.
000070220 700__ $$aMartos, G.
000070220 700__ $$aPozo, J.
000070220 700__ $$aRubio-Cabezas, O.
000070220 700__ $$aBilbao Gasso, L.
000070220 700__ $$aMarti, G.
000070220 700__ $$aMartorell, L.
000070220 700__ $$aCardona, R.
000070220 700__ $$aSuarez, L.
000070220 700__ $$aZambudio Sert, S.
000070220 700__ $$aObon, M.
000070220 700__ $$aSanchis Calvo, A.
000070220 700__ $$aMoreno Macian, F.
000070220 700__ $$aCruz-Rojo, J.
000070220 700__ $$aGarzon Lorenzo, L.
000070220 700__ $$aSanchez del Pozo, J.
000070220 700__ $$aRiaño, I.
000070220 700__ $$aLahera Vargas, M.
000070220 700__ $$aBlanco-Kelly, F.
000070220 700__ $$aLorda Sanchez, M.I.
000070220 700__ $$aSoriano Guillen, L.
000070220 700__ $$aTahsin Swafiri, S.
000070220 700__ $$aAzriel, A.
000070220 700__ $$aLecumberri, B.
000070220 700__ $$aMoreno, J.C.
000070220 700__ $$aGarcia Nieto, V.
000070220 700__ $$aGarcia Diaz, J.
000070220 700__ $$aMarin Iglesias, R.
000070220 700__ $$aLaura Fernandez, A.
000070220 700__ $$aMartin Fuentes, M.
000070220 700__ $$aCasteras, A.
000070220 700__ $$aClemente Leon, M.
000070220 700__ $$aBallesta-Martinez, M.
000070220 700__ $$aSanchez Soler, M.J.
000070220 700__ $$aGonzalez Meneses, A.
000070220 700__ $$aLopez Lopez, J.
000070220 700__ $$aGarcia Barcina, M.J.
000070220 700__ $$aGener, B.
000070220 700__ $$aLlano, I.
000070220 700__ $$aBonet Alcaina, M.
000070220 773__ $$g19, 1 (2018), 32 [10 pp]$$pBMC Medical Genetics$$tBMC Medical Genetics$$x1471-2350
000070220 8564_ $$s759760$$uhttps://zaguan.unizar.es/record/70220/files/texto_completo.pdf$$yVersión publicada
000070220 8564_ $$s83374$$uhttps://zaguan.unizar.es/record/70220/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000070220 909CO $$ooai:zaguan.unizar.es:70220$$particulos$$pdriver
000070220 951__ $$a2020-01-17-21:31:58
000070220 980__ $$aARTICLE