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Photo of Dr. Meral Gunay-Aygun

Meral Gunay-Aygun, MD

Pediatrician, Metabolic Geneticist
Associate Professor of Pediatrics
Appointment Phone


Main Location

Johns Hopkins Pediatric Specialty Clinic

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Out-of-State & International Patients +
Out of State Patients

Call 410-464-6641 (8a.m. to 6p.m., EST, Mon-Fri)

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International Patients

Call +1-410-502-0773 (7a.m. to 6p.m., EST, Mon-Fri)

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  • Pediatrician, Metabolic Geneticist
  • Associate Professor of Pediatrics

Centers & Institutes

  • McKusick-Nathans Institute of Genetic Medicine


Genetics and Inherited Diseases, Medical Genetics, Pediatric Metabolic Disorders


  • English
  • Turkish

Additional Resources

Additional Resources +
  • Education +


    • Hacettepe University Faculty of Medicine (Ankara) (1987)


    • St. Vincent Charity Medical Center / Pediatrics (Cleveland OH ) (1998)
    • Case Western Reserve University / Genetics (Cleveland OH ) (1997)
    • Haceteppe Children's Hospital / Pediatrics (Ankara) (1994)
    • Marmara University Faculty of Medicine / Pediatrics (Istanbul) (1989)


    • National Institutes of Health / Genetics (Bethesda MD ) (2004)
    • Cleveland Clinic (Cleveland OH ) (1999)


    • American Board of Medical Genetics / Clinical Genetics (MD) (2010)
    • American Board of Medical Genetics / Clinical Biochemical Genetics (2005)
  • Research & Publications +

    Selected Publications


    1. Gunay-Aygun, Meral and William A Gahl. Autosomal-Recessive      Polycystic Kidney Disease Gets More Complex (Reply). Gastroenterology. 2013 May;144(5):1156-7.
    2. Gunay-Aygun M, Font-Montgomery      E, Lukose L, Tuchman Gerstein M, Piwnica-Worms K, Choyke P, Daryanani K, Turkbey      B, Fischer R, Bernardini I, Sincan M, Zhao X, Sandler N, Roque A, Douek D,      Graf J, Huizing M, Bryant J, Mohan P, Gahl W, Heller T. Characteristics of Congenital Hepatic Fibrosis in a      Large Cohort of Patients with Autosomal Recessive Polycystic Kidney      Disease. Gastroenterology. 2013      Jan;144(1):112-121
    3. Jill      A. Fahrner, Anne M. Murphy, and Meral Gunay-Aygun. Hypertrophic      Cardiomyopathy: How far should we go with genetic testing? Am J Med Genet A. 2012 Jun;158A(6):1414-21. doi:      10.1002/ajmg.a.35363. Epub 2012 May 14
    4. Jill A. Fahrner, Aisha      Frazier, Suha Bachir, Michael F.      Walsh, Carolyn D. Applegate, Reid Thompson, Marc K. Halushka, Anne M.      Murphy, and Meral Gunay-Aygun.      A Rasopathy Phenotype with Severe Congenital Hypertrophic Obstructive      Cardiomyopathy associated with a PTPN11 Mutation and a Novel      Variant in SOS1. American J      of Medical Genetics, 2012;158A(6):1414-21.     
    5. O’Brien K, Font-Montgomery      E, Lukose L, Bryant J, Piwnica-Worms K, Edwards H, Riney L, Garcia A, Daryanani      K, Choyke P, Mohan P, Heller T, Gahl WA, and Gunay-Aygun M. Congenital Hepatic Fibrosis and Portal      Hypertension in Autosomal Dominant Polycystic Kidney Disease. J Pediatr Gastroenterol Nutr. 2012 Jan; 54(1):83-9.
    6. Topaloglu R, T Vilboux, T.      Coskun, F. Ozaltin, B. Tinloy, M.      Gunay-Aygun , A. Bakkaloglu, N. Besbas, B. van den Heuvel, R. Kleta, W.A. Gahl. Genetic      basis of cystinosis in Turkish patients: a single center experience. Pediatr Nephrol. 2012 Jan;27(1):115-21.
    7. Bachmann-Gagescu R, Ishak      GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline      AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L,      Ronan A, Parisi MA, Mefford H, Glass I, Doherty D. Genotype-phenotype      correlation in CC2D2A-related      Joubert syndrome reveals an association with ventriculomegaly and      seizures. J Med Genet. 2012 Feb; 49(2):126-37.
    8. Ali H. Charafeddine, Eugenia J. Kim, Dawn M. Maynard,      Hong Yi, Timothy A. Weaver, Meral      Gunay-Aygun, Maria Russell, William A. Gahl, and Allan D. Kirk. Platelet-derived      CD154: ultrastructural localization and clinical correlation in organ      transplantation. Am J Transplant. 2012      Nov;12(11):3143-51.
    9. Gunay-Aygun M, Turkbey BI, Bryant J,      Daryanani KT, Gerstein MT, Piwnica-Worms K, Choyke P, Heller T, Gahl WA. Hepatorenal findings      in obligate heterozygotes for autosomal recessive polycystic kidney      disease. Mol Genet Metab. 2011 Dec;104(4):677-81.
    10. Cullinane      AR, Vilboux T, O’Brien K, Curry JA, Maynard D, Carlson-Donohoe, H,      Ciccone, C, NISC Comparative Sequencing Program, Markello, T, Gunay-Aygun M, HuizingM,      and Gahl AW. Homozygosity      Mapping and Whole Exome Sequencing to Diagnose SLC45A2 and G6PC3      Mutations Mimicking HPS-2. J Invest      Dermatol. 2011 Oct;131(10):2017-25.
    11. White JG and Gunay-Aygun M. The York Platelet      Syndrome: A third case. Platelets 2011; 22:117-34.
    12. Gunay- Aygun M, Falik-Zaccai      T, Vilboux T, Zivony-Elboum      Y, Gumruk F, Cetin M, Khayat M, Boerkoel C, Kfir N, Huang Y, Maynard D, Dorward H, Berger K,      Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel      Beate E10,      Jurk Kerstin10,      Cruz Pedro11, Mullikin Jim C11,      White James G12, Huizing Marjan1,Gahl      William A1,2 NBEAL2 is mutated in Gray Platelet Syndrome and required for biogenesis of      platelet alpha-granules. Nat Genet. 2011      Jul 17;43(8):732-4.
    13. Ware S, Gunay-Aygun M, Hildebrant F. Other      ciliopathies with some clinical features of Primary Ciliary Dyskinesia. (Primary Ciliary Dyskinesia and Overlapping Syndromes). Proc Am Thorac Soc. 2011 Sep;8(5):444-50.
    14. Gunay-Aygun M, Zivony-Elboum      Y, Gumruk F, Geiger D, Cetin M, Khayat M,      Kleta R, Kfir N, Anikster Y, Chezar J, Arcos-Bugos M, Shalata A, Stanescu      H, Manaster  J, Arat      M, Edwards H, Freiberg AS, Hart PS, Riney LC, Patzel K, Tanpaiboon P,      Markello T, Huizing M, Maric I, Horne M, Kehrel BE, Jurk K, Hansen      NF,Cherukuri PF, Jones M,      Cruz P, Mullikin JC, Nurden A, White JG,      Gahl WA, and Falik-Zaccai TC. Gray      Platelet Syndrome: Natural history of a large patient cohort and locus      assignment to chromosome 3p. Blood      2010:116:4990-5001
    15. Chetty-John S, Piwnica-Worms K, Bryant      J, Bernardini I, Fischer R, Heller T, Gahl WA and Gunay-Aygun M. Fibrocystic Disease of the Liver and Pancreas;      Underrecognized features of the X-linked Ciliopathy Oral-Facial-Digital      Syndrome Type 1 (OFD I). American J of Medical Genetics 2010;152:2640-5.
    16. Maynard DM, Heijnen HF,      Gahl WA, Gunay-Aygun M. The alpha granule proteome: novel      proteins in normal and ghost granules in gray platelet syndrome. Journal of Thrombosis and      Homeostasis 2010; 8:1786-96.
    17. Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman M, Graf J,      Bryant JC, Kleta R, Garcia A, Edwards H, Piwnica-Worms K, Adams D, Bernardini      I, Fischer RE, Krasnewich D, Oden N, Ling A, Quezado Z, Zak C, Daryanani      K, Turkbey B, Choyke P, Guay-Woodford L, Gahl WA. Correlation of Kidney      Function, Volume, and Imaging Findings and PKHD1 Mutations in 73 Patients      with Autosomal Recessive Polycystic Kidney Disease. Clinical Journal of the American Society of Nephrology 2010;      5:972-84.
    18. Doherty D,Parisi M,Finn LS,      Gunay-Aygun M, Al-Mateen      M, Bates D, Clericuzio C, Demir      H, Dorschner M, van      Essen AJ, Gahl WA, Gentile M, Gorden      NT, Hikida A, Knutzen D, Özyurek H, Phelps I, Rosentha P, Verloe A, Weigand H, Chance PF, Dobyns      WB, and Glass IA. Mutations in 3 genes (MKS3, RPGRIP1L,      and CC2D2A) cause COACH syndrome/Joubert syndrome with congenital hepatic      fibrosis. Journal of Medical     Genetics 2010; 47:8-21
    19. Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards      H, Garcia A, Ausawarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini      I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA. PKHD1 Sequence      variations in 78 Children and Adults with Autosomal Recessive Polycystic      Kidney Disease and Congenital Hepatic Fibrosis. Molecular Genetics and Metabolism 2010; 99:160-73.
    20. Gunay-Aygun M. Liver      and Kidney Disease in Disorders of the Primary Non-Motile Cilia. American Journal of Medical Genetics,      Seminars in Medical Genetics 2009; 151 :296-306.
    21. Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Lukose      L, Bryant JC, Golas G, Dorward H, Ciccone C, Daryanani KT, Kleiner DE,      Huizing M, Turkbey B, Choyke P, Guay-Woodford      L, Heller T, Szymanska K, Johnson CA,      Glass I, Gahl WA. MKS3-related      Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease,      Nephronophthisis and Joubert Syndrome. Journal      of Pediatrics 2009; 155:386-92.
    22. Turkbey B, Ocak I,      Daryanani K, Font-Montgomery E, Lukose L, Bryant J, Tuchman M, Mohan P,      Heller T, Gahl WA, Choyke PL, Gunay-Aygun      M. Autosomal recessive polycystic kidney disease and congenital      hepatic fibrosis (ARPKD/CHF). Pediatric Radiology 2009; 39:100-11.
    23. Huizing M, Helip-Wooley A,      Westbroek W, Gunay-Aygun M,      Gahl WA. Disorders of lysosome-related organelle biogenesis: clinical and      molecular genetics. Annual Reviews in      Genomics Human Genetics 2008; 9: 359-86.
    24. Gunay-Aygun M, Avner ED, Bacallao RL, Choyke P, Flynn J, Germino GG,      Guay-Woodford L, Harris PC, Heller T, Ingelfinger J, Kaskel F, Kleta R, LaRusso      NF, Mohan P, Pazour GJ, Shneider BL, Torres V, Wilson P, Zak C, Zhou J,      Gahl WA. Autosomal Recessive Polycystic Kidney Disease and Congenital      Hepatic Fibrosis: Summary Statement of a First National Institutes of      Health/Office of Rare Diseases Conference. Journal of Pediatrics 2006:149:159-64.
    25. Gunay-Aygun M. Inborn Errors Digest: 3-Methylglutaconic      Aciduria: A Common Biochemical Marker in Various Syndromes with Diverse      Clinical Features. Molecular Genetics      and Metabolism 2005; 84:1-3.
    26. Zarzour W, Kleta R, Frangoul H, Suwannarat      P, Jeong A, Kim SY, Wayne AS, Gunay-Aygun      M, White J, Filipovich AH, Gahl WA. Two novel CHS1 (LYST)      mutations: Clinical correlations in an infant with Chediak-Higashi      syndrome. Molecular Genetics and      Metabolism 2005; 85:125-32.
    27. Gunay-Aygun M, Huizing M, Gahl WA. Molecular Defects      That Affect Platelet Dense Granules. Seminars      in Thrombosis and Hemoastasis 2004; 30: 537-547.
    28. Gunay-Aygun M, Schwartz S, Heeger S, O’Riordian MA, and      Cassidy SB. The changing purpose of Prader-Willi Syndrome Clinical      Diagnostic Criteria and Proposed Revised Criteria. Pediatrics 2001; 108: 1200-1201.
    29. Kilic I, Kilic BA, Gunay-Aygun M, and Aksit MA. Camptodactyly, Myopia, and      Fibrosis of the Medial Rectus of the eye in two sibs born to      Consanguineous Parents: Autosomal Recessive Entity? American Journal of Medical Genetics 1998; 77:28-30.
    30. Gunay-Aygun M, Cassidy SB, and Nicholls RD.      Prader-Willi and other syndromes associated with obesity and mental      retardation. Behavior Genetics 1997; 27:307-324.
    31. Gunay-Aygun M, Heeger S, Schwartz S, Cassidy SB. Delayed      diagnosis in patients with Prader-Willi syndrome due to maternal      uniparental disomy 15. American      Journal of Medical Genetics 1997; 71:106-110.
    32. Robin NH, Gunay-Aygun M, Polinkovsky A, Warman ML, and Morrison      S. Clinical and locus heterogeneity in brachydactyly type C. American Journal of Medical Genetics      1997; 68:369-377.
    33. Gunay M, and Aysun S. Neuronal      migration disorders presenting with mild clinical symptoms. Pediatric Neurology 1996;      14:153-154.
    34. Gogus S, Topcu M, Kucukali T, Akcoren Z,      Berkel I, Ersoy F, Gunay M, and Saatci I. Griscelli      Syndrome: Report of three cases. Pediatric      Pathology and Laboratory Medicine 1995; 15:309-319.
    35. Özsoylu S, Cemeroglu AP, Gunay M. Vitamin A for Varicella. Journal of Pediatrics 1994;      125:1017-8.
    36. Aysun S, Topçu M, Gunay M, Topaloglu H. Neurologic features as initial      presentations of childhood malignancies. Pediatric Neurology 1994; 10:40-43.
    37. Gürgey A, Sayli T, Gunay M, Ersoy F, Küçükali T, Kale G, Çaglar M.      High-dose methylprednisolone and VP-16 in the treatment of Griscelli      syndrome with central nervous system involvement. American Journal of Hematology 1994; 47:331-2.
    38. Ozon A, Topaloglu H, Cila A, Gunay M, and Çetin M. Acute      ascending myelitis and encephalopathy after intrathecal cytosine      arabinoside and methotrexate in an adolescent boy with acute lymphoblastic      leukemia. Brain and Development      1994; 16:246-8.
    39. Çetin M, Yetgin S, Kara A, Tuncer M, Gunay M, Gümrük F, Gürgey A.      Hyperglycemia, ketoacidosis and other complications of L- Asparaginase in      children with acute lymphoblastic leukemia. Journal of Medicine 1994; 25:219-29.
    40. Balci S, Önol B, Erçal MD, Gunay M, Besim A, Eryilmaz M.      Autosomal recessive holoprosencephaly with cyclops in three female sibs:      prenatal ultrasonographic diagnosis at 18th week. Clinical Dysmorphology 1993; 2:165-8.
    41. Tokatli A, Coskun T, Ozalp      I, Gunay M. The major      presenting symptom in a biotinidase deficient patient: Laryngeal stridor. Journal of Inherited Metabolic Disease      1992; 15: 281-2.
  • Academic Affiliations & Courses +
  • Activities & Honors +

    Professional Activities

    Dr. Gunay-Aygun performs her reseacrh at the National Human Genome Research Institute (NHGRI), at the National Institutes of Heath (NIH). She is senior attending staff at the NIH Clinical Center.
  • Videos & Media +
  • Events +
  • Contact & Locations +


    Johns Hopkins Pediatric Specialty Clinic
    200 N. Wolfe Street
    Johns Hopkins Harriet-Lane Outpatient Clinic
    Baltimore, MD 21287
    Phone: 410-955-0317
    Appointment Phone: 410-955-3071
    Fax: 410-614-9246
    Location Map


    • Pediatrics - Metabolism
    • Pediatrics - Genetics

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