perezAntonio Perez-Aytes


Phone: +34 961244127 and  +34 963862700 (Ext: 411136)

Dr. Perez-Aytes graduated in Medicine in 1973 from the University of Valencia School of Medicine. During 1974 he did an internship at the Hospital V. Arrixaca in Murcia. Between 1975 and 1978 he completed his pediatric residency at the Department of Pediatrics in the Hospital La Fe in Valencia. Since 1979 he is a staff member of the Division of Neonatology of the Hospital La Fe.

Very early in his professional career he started to focused on perinatology with special emphasis on the study of birth defects. His main interests are: (i) vascular ischemic events during in utero development as a common pathogenetic mechanism for birth defects and (ii) the study of teratogenic agents, specially the teratogenic effect of micophenolate mofetil (Cellcept®), an immunosupressor agent widely used in organ trasplants and autoimune diseases.

His training in dysmorphology and birth defects was completed by two grants (Becas FIS) from the Spanish Ministry of Health. In 1988 he visited the Division of Molecular Genetics of Istituto Giannina Gaslini in Genova, Italy (Head of Department: Prof. Giovanni Romeo) where he was initiated in the new advances in molecular genetics applied to the study of birth defects. During 1991 he worked at the Division of Medical Genetics at the University of Utah in Salt Lake City (USA) under the supervision of Prof. John C. Carey. During this year he participated in the clinical and embryological interpretation of congenital malformations and the study of teratogenic agents at the Pregnancy Risk-Line of Utah State Health Department.

In 2004 he obtained the PhD from the University of Valencia. His Thesis was focused on the Moebius syndrome as a clinical model for vascular disruptive defects. Actually he is the responsible person of the Dysmorphology and Genetic Reproductive Clinic of the University Hospital La Fe.

Dr. Perez-Aytes is member of the Spanish Society of Pediatrics (AEP) and has been president of the Clinical Genetics and Dysmorphology section of AEP from 1995 to 2001. He is also member of the Spanish Society of Human Genetics, the Spanish Society of Prenatal Diagnosis and the American Society of Human Genetics as well as a consultant for the European Consortium of Rare Diseases (ORPHANET).

Most relevant publications:

Birth defects and vascular disruption:

A. Perez Aytes, J.M. Graham, J.H. Hersh, G.H. Hoyme, J.C. Carey, Urethral Obstruction Sequence and Lower Limb Deficien­cy: Evidence for the Vascular Disruption Hypothesis, J. Pediatr 123 (1993) 398-405.

A. Pérez Aytés, L. Montero, J. Gomez, A. Payá, Single aberrant umbilical artery in a fetus with severe caudal defects: Sirenomelia or Caudal Dysgenesis, Am. J. Med. Genet. 69 (1997) 409-412.

G. Rodríguez Criado, A. Pérez Aytés, Möbius sequence, hypogenitalism, cerebral, and skeletal malformations in two brothers, Am. J. Med. Genet. 86 (1999) 492-496.

Gene identification in dysmorphic syndromes:

F. Martínez, I. Martínez-Garay, J.M. Millán, A. Pérez Aytés, M.D. Moltó, C. Orellana, F. Prieto, Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2, Am. J. Med. Genet. 102 (2001) 200-4.

L. McGregor, V. Makela, S.M. Darling, S. Vontrou, G. Chalepakis, C. Roberts, N. Smart, P. Rutland, N. Prescott, J. Hopkins, E. Bentley, A. Shaw, E. Roberts, R. Mueller, S. Jadeja, N. Philip, J. Nelson, C. Francannet, A. Pérez Aytés, A. Megarbanné, B. Kerr, B. Wainwright, A.S. Woolf, R.M. Winter, P.J. Scambler, Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein, Nature. Genet. 34 (2003) 203-8.

S. Jadeja, I. Smyth, J.E. Pitera, M.S. Taylor, M. van Haelst, E. Bentley, L. McGregor, J. Hopkins, G. Chalepakis , N. Philip, A. Pérez Aytés, F.M. Watt, S.M. Darling, I. Jackson, A.S. Woolf, P.J. Scambler, Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs, Nature Genet. 37 (2005) 520-5.  

P. Hermanns, S. Unger, A. Rossi, A. Perez-Aytes, H. Cortina, L. Bonafé, L. Boccone, V. Setzu, M. Dutoit, L. Sangiorgi, F. Pecora, K. Reicherter, G. Nishimura, J. Spranger, B. Zabel, A. Superti-Furga, Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis, Am. J. Hum. Genet. 82 (2008) 1368-1374.  

C.S. Hwang, M. Sukalo, O. Batgyn, M.C. Addor, H. Brunner, A. Perez-Aytes, J. Mayerle, H.K. Song, A. Varshavsky, M. Zenker, Ubiquitin ligases of the N-Ebd Rule Pathaway: Assesment of mutations in UBR1 that cause the Johansson-Blizzard syndrome, PlosOne 6 (2011) 1-  (e24925).

Teratogenic agents/Mycophenolate mofetil embriopathy:

A. Perez-Aytes, A. Ledo, V. Boso, P. Sáenz, E. Roma, J.L. Poveda, M. Vento, In utero exposure to Mycophenolate Mofetil: A characteristic phenotype?, Am. J. Med. Genet. 146A (2008) 1-7.

M. Vento, A. Perez Aytes, A. Ledo, V. Boso, J.C. Carey, Mycophemolate mofetil during pregnancy: some words of caution, Pediatrics 122 (2008) 1-2.

M.P. Adam, L. Hudgins, J.C. Carey, B.D. Hall, K. Coleman, K.W. Gripp, A. Perez-Aytes, J.M. Graham, Preaxial Hallucal polydactyly as a Marker for Diabetic Embriopathy, Birth Defects Research (Part A) 85 (2009) 13-19.

A. Perez-Aytes, A. Ledo, V. Boso, J.C. Carey, M. Castell, M. Vento, Immunosuppressive drugs and pregnancy: Mycophenolate Mofetil Embriopathy, NeoReviews 11 (2010) e578-e589.

Congenital malformations:

A. Perez Aytés, N. Sanchis, A. Barbal, M.J. Artés, J. Domene, M. Chirivella, A. Baamonde, Non-Immunological hydrops fetalis and intrapericardial teratoma: Case report and review, Prenat. Diagn. 15 (1995) 859-863.

J. Bellver, C. Lara, A. Pérez Aytés, A. Pellicer, J. Remohí, V. Serra, First-trimester diagnosis of thrombocytopenia-absent radius (TAR) síndrome in a triplet pregnancy, Prenat. Diagn. 25 (2005) 331-7.

P.C. Vasudevan, S. Garcia-Miñaur, M.P. Botella, A. Perez-Aytes, N.L. Shannon, O.W.J. Quarrell, Microcephaly-lymphedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature, Clin. Dysmorphol. 14 (2005) 109-16.

M. Valencia, P. Lapunzina, D. Lim, R. Zannolli, D. Bartholdi, B. Wollnik, O. Al-Ajlouni, S.S. Eid, H. Cox, S. Buoni, J. Hayek, M.L. Martinez-Frias, A. Perez-Aytes, S. Temtamy, M. Aglan, J.A. Goodship, V.L. Ruiz-Perez, Widening the Mutation Spectrum of EVC and EVC2: Ectopic Expression of Weyer Variants in NIH 3T3 Fibroblasts Disrupts Hedgehog Signaling, Hum. Mutat. 30 (2009) 1667–1675.

B. Ezquieta, J.L. Santome, A. Carcavilla, E. Guillen-Navarro, A. Perez-Aytes, J. Sanchez del Pozo, S. Garcia-Miñaur, E. Castillo, M. Alonso, T. Vendrell, A. Santana, E. Maroto, L. Galbisa, Alterations in RAS-MAPK Genes in 200 Spanish Patients With Noonan and Other Neuro-Cardio-Facio-Cutaneous Syndromes, Genotype and Cardiopathy. Rev. Esp. Cardiol. 65 (2012) 447-55.