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Paulshock BZ. Tutankhamun and his brothers: familial gynecomastia in the Eighteenth Dynasty.  JAMA. 1980;244(2):160-1646991731PubMedGoogle ScholarCrossref
Braverman IM, Redford DB, Mackowiak PA. Akhenaten and the strange physiques of Egypt's 18th dynasty.  Ann Intern Med. 2009;150(8):556-56019380856PubMedGoogle ScholarCrossref
Farag TI, Iskandar A. Tutankhamun's paternity.  J R Soc Med. 1998;91(5):291-2929764094PubMedGoogle Scholar
Walshe JM. Tutankhamun: Klinefelter's or Wilson’s?  Lancet. 1973;1(7794):109-1104118642PubMedGoogle ScholarCrossref
Boyer RS, Rodin EA, Grey TC, Connolly RC. The skull and cervical spine radiographs of Tutankhamen: a critical appraisal.  AJNR Am J Neuroradiol. 2003;24(6):1142-114712812942PubMedGoogle Scholar
Brier B. The Murder of Tutankhamen: A True Story. New York, NY: GP Putnam's Sons; 1998
Harrison RG. Post mortem on two pharaohs: was Tutankhamen's skull fractured? Buried Hist. 1971;4:114-129
King MR. Who Killed King Tut? Amherst, NY: Prometheus Press; 2004
Counsell DJ. Tutankhamun's murder: case re-opened. Ancient Egypt. 2008;10(11):34-40
Harer WB. Chariots, Horses or Hippos: What Killed Tutankhamun? London, UK: Minerva; 2007
Weber J, Collmann H, Czarnetzki A, Spring A, Pusch CM. Morphometric analysis of untreated adult skulls in syndromic and nonsyndromic craniosynostosis.  Neurosurg Rev. 2008;31(2):179-18817992550PubMedGoogle ScholarCrossref
Roberts C, Ingham S. Using ancient DNA analysis in paleopathology: a critical analysis of published papers, with recommendations for future work. Int J Osteoarcheol. 2008;18(6):600-613
Richards MB, Sykes BC, Hedges REM. Authenticating DNA extracted from ancient skeletal remains.  J Archaeol Sci. 1995;22(2):291-299Google ScholarCrossref
Scholz M, Pusch CM. An efficient isolation method for high-quality DNA from ancient bones.  Trends Genet. 1997;13(6):249Google ScholarCrossref
Pusch CM, Bachmann L. Spiking of contemporary human template DNA with ancient DNA extracts induces mutations under PCR and generates nonauthentic mitochondrial sequences.  Mol Biol Evol. 2004;21(5):957-96415014140PubMedGoogle ScholarCrossref
Pusch CM, Bachmann L, Broghammer M, Scholz M. Internal Alu-polymerase chain reaction: a sensitive contamination monitoring protocol for DNA extracted from prehistoric animal bones.  Anal Biochem. 2000;284(2):408-41110964428PubMedGoogle ScholarCrossref
Pyeritz RE, McKusick VA. The Marfan syndrome: diagnosis and management.  N Engl J Med. 1979;300(14):772-777370588PubMedGoogle ScholarCrossref
De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome.  Am J Med Genet. 1996;62(4):417-4268723076PubMedGoogle ScholarCrossref
Wilner HI, Finby N. Skeletal manifestations in the Marfan syndrome.  JAMA. 1964;187:490-49514084820PubMedGoogle ScholarCrossref
Carter H, Mace AC. The Tomb of Tut-Ankh-amun. Vol 2. London, England: Cassell & Co; 1927
Harrison RG, Abdallah AB. The remains of Tutankhamun.  Antiquity. 1972;46:8-14Google Scholar
Harris JE, Wente EF. An X-Ray Atlas of the Royal Mummies. Chicago, IL: University of Chicago Press; 1980
Hawass Z, Shafik M, Rühli F,  et al.  Computed tomographic evaluation of pharaoh Tutankhamun, ca. 1300 BC.  Ann Serv Antiq Egypte. 2009;81:159-174Google Scholar
Germer R. Die Heilpflanzen der Ägypter. Zürich, Switzerland: Artemis & Winkler; 2002
Westendorf W. Erwachen der Heilkunst: die Medizin im alten Ägypten. Zürich, Switzerland: Artemis Verlag AG; 1992
Cunha CB, Cunha BA. Brief history of the clinical diagnosis of malaria: from Hippocrates to Osler.  J Vector Borne Dis. 2008;45(3):194-19918807375PubMedGoogle Scholar
Sallares R, Bouwman A, Anderung C. The spread of malaria to southern Europe in antiquity: new approaches to old problems.  Med Hist. 2004;48(3):311-32816021928PubMedGoogle ScholarCrossref
Cheng Q, Cloonan N, Fischer K,  et al.  Stevor and rif are Plasmodium falciparum multicopy gene families which potentially encode variant antigens.  Mol Biochem Parasitol. 1998;97(1-2):161-1769879895PubMedGoogle ScholarCrossref
Kiwanuka GN. Genetic diversity in Plasmodium falciparum merozoite surface protein 1 and 2 coding genes and its implications in malaria epidemiology: a review of published studies from 1997-2007.  J Vector Borne Dis. 2009;46(1):1-1219326702PubMedGoogle Scholar
Mlambo G, Sullivan D, Mutambu SL,  et al.  Analysis of genetic polymorphism in select vaccine candidate antigens and microsatellite loci in Plasmodium falciparum from endemic areas at varying altitudes.  Acta Trop. 2007;102(3):201-20517568548PubMedGoogle ScholarCrossref
Harrison RG. An anatomical examination of the Pharaonic remains purported to be Akhenaten.  J Egypt Archaeol. 1966;52:95-119Google ScholarCrossref
Harrison RG, Connolly RC, Abdalla A. Kinship of Smenkhkare and Tutankhamun demonstrated serologically.  Nature. 1969;224(5217):325-3264898924PubMedGoogle ScholarCrossref
Huppertz A, Wildung D, Kemp BJ,  et al.  Nondestructive insights into composition of the sculpture of Egyptian Queen Nefertiti with CT.  Radiology. 2009;251(1):233-24019332855PubMedGoogle ScholarCrossref
Freed RE, Markowitz YJ, D’Auria SH. Pharaohs of the Sun: Akhenaten; Nefertiti; Tutankhamun. London, UK: Thames & Hudson; 1999
Diethelm L, Olsson O, Strnad S, Vieten H, Zuppinger A. Handbuch der medizinischen Radiologie V/4, Skeletterkrankungen. Berlin, Germany: Springer; 1976
Reeves N. The Complete Tutankhamun: The King, the Tomb, the Royal Treasure. London, UK: Thames & Hudson; 1990
Saleh M, Sourouzian H. Official Catalogue of the Egyptian Museum, CairoMainz, Germany: Verlag Philipp von Zabern; 1987. Carter 540, Carter 551, Catalog No. 188
Saleh M, Sourouzian H. Official Catalogue of the Egyptian Museum, CairoMainz, Germany: Verlag Philipp von Zabern; 1987. Carter 108, Catalog No. 178
Leek F. The Human Remains From the Tomb of Tutankhamun. Oxford, UK: Tutankhamun Tomb Series V; 1972
Bogdonoff MD, Crellin JK, Good RA,  et al.  The Genuine Works of Hippocrates. Birmingham, UK: Classics of Medicine Library; 1985
Joy DA, Feng X, Mu J,  et al.  Early origin and recent expansion of Plasmodium falciparum.  Science. 2003;300(5617):318-32112690197PubMedGoogle ScholarCrossref
Bianucci R, Mattutino G, Lallo R,  et al.  Immunological evidence of Plasmodium falciparum infection in an Egyptian child mummy from the Early Dynastic Period. J Arch Sci. 2008;35(7):1880-1885
Sallares R, Gomzi S. Biomolecular archaeology of malaria. Anc Biomol. 2001;3:195-213
Taylor GM, Rutland P, Molleson T. A sensitive polymerase chain reaction method for the detection of Plasmodium species DNA in ancient human remains. Anc Biomol. 1997;1:193-203
Zink A, Haas CJ, Herberth K, Nerlich AG. PCR amplification of Plasmodium DNA in ancient human remains. Anc Biomol. 2001;3:293
Nerlich AG, Schraut B, Dittrich S, Jelinek T, Zink  AR. Plasmodium falciparum in ancient Egypt.  Emerg Infect Dis. 2008;14(8):1317-131918680669PubMedGoogle ScholarCrossref
Ntoumi F, Ngoundou-Landji J, Lekoulou F, Luty A, Deloron P, Ringwald P. Site-based study on polymorphism of Plasmodium falciparum MSP-1 and MSP-2 genes in isolates from two villages in Central Africa.  Parassitologia. 2000;42(3-4):197-20311686079PubMedGoogle Scholar
Issifou S, Ndjikou S, Sanni A, Lekoulou F, Ntoumi F. No influence of the transmission season on genetic diversity and complexity of infections in Plasmodium falciparum isolates from Benin.  Afr J Med Med Sci. 2001;30:(suppl)  17-2014513933PubMedGoogle Scholar
Nunn JF. Disease. Cairo, Egypt: American University in Cairo Press; 2001
Strouhal E. Life of the Ancient Egyptians. Cairo, Egypt: American University in Cairo Press; 1992
 Herodotus. The HistoriesWaterfield R, trans. Oxford, UK: Oxford University Press; 2008:130-131
Hviid L. Naturally acquired immunity to Plasmodium falciparum malaria in Africa.  Acta Trop. 2005;95(3):270-27516018958PubMedGoogle ScholarCrossref
Diener H. Fachlexikon ABC Arzneipflanzen und Drogen. Frankfurt am Main, Germany: Verlag Harri Deutsch Thun; 1986
Germer R. Die Planzenmaterialien aus dem Grab des Tutanchamun. Hildesheim, Germany: Hildesheimer ägyptologische Beiträge; 1989
Germer R. Handbuch der altägyptischen Pflanzen: Philippika, Marburger altertumskundliche Abhandlungen 21. Wiesbaden, Germany: Harrassowitz Verlag; 2008
Neuwinger HD. African Traditional Medicine: a Dictionary of Plant Use and Applications. Stuttgart, Germany: Medpharm Scientific; 2000
Ghazanfar SA. Handbook of Arabian Medicinal Plants. Boca Raton, FL: CRC Press; 1994
Original Contribution
February 17, 2010

Ancestry and Pathology in King Tutankhamun's Family

Author Affiliations

Author Affiliations: Supreme Council of Antiquities, Cairo, Egypt (Dr Hawass and Mr Elleithy); National Research Center, Cairo, Egypt (Drs Gad, Ismail, and Amer and Mss Hasan and Ahmed); Ancient DNA Laboratory, Egyptian Museum, Cairo, Egypt (Drs Gad and Ismail and Mss Fathalla, Khairat, Hasan, and Ahmed); Institute of Human Genetics, Division of Molecular Genetics, University of Tübingen, Tübingen, Germany (Ms Khairat, Mr Ball, and Dr Pusch); Learning Resource Center, Kasr Al Ainy Faculty of Medicine, Cairo University, Cairo, Egypt (Drs Gaballah and Fateen and Ms Wasef); Department of Radiodiagnostics, Central Hospital Bolzano, Bolzano, Italy (Dr Gostner); Department of Radiology, Kasr Al Ainy Faculty of Medicine, Cairo, Egypt (Dr Selim); and Institute for Mummies and the Iceman, EURAC, Bolzano, Italy (Dr Zink).

JAMA. 2010;303(7):638-647. doi:10.1001/jama.2010.121

Context The New Kingdom in ancient Egypt, comprising the 18th, 19th, and 20th dynasties, spanned the mid-16th to the early 11th centuries BC. The late 18th dynasty, which included the reigns of pharaohs Akhenaten and Tutankhamun, was an extraordinary time. The identification of a number of royal mummies from this era, the exact relationships between some members of the royal family, and possible illnesses and causes of death have been matters of debate.

Objectives To introduce a new approach to molecular and medical Egyptology, to determine familial relationships among 11 royal mummies of the New Kingdom, and to search for pathological features attributable to possible murder, consanguinity, inherited disorders, and infectious diseases.

Design From September 2007 to October 2009, royal mummies underwent detailed anthropological, radiological, and genetic studies as part of the King Tutankhamun Family Project. Mummies distinct from Tutankhamun's immediate lineage served as the genetic and morphological reference. To authenticate DNA results, analytical steps were repeated and independently replicated in a second ancient DNA laboratory staffed by a separate group of personnel. Eleven royal mummies dating from circa 1410-1324 BC and suspected of being kindred of Tutankhamun and 5 royal mummies dating to an earlier period, circa 1550-1479 BC, were examined.

Main Outcome Measures Microsatellite-based haplotypes in the mummies, generational segregation of alleles within possible pedigree variants, and correlation of identified diseases with individual age, archeological evidence, and the written historical record.

Results Genetic fingerprinting allowed the construction of a 5-generation pedigree of Tutankhamun's immediate lineage. The KV55 mummy and KV35YL were identified as the parents of Tutankhamun. No signs of gynecomastia and craniosynostoses (eg, Antley-Bixler syndrome) or Marfan syndrome were found, but an accumulation of malformations in Tutankhamun's family was evident. Several pathologies including Köhler disease II were diagnosed in Tutankhamun; none alone would have caused death. Genetic testing for STEVOR, AMA1, or MSP1 genes specific for Plasmodium falciparum revealed indications of malaria tropica in 4 mummies, including Tutankhamun’s. These results suggest avascular bone necrosis in conjunction with the malarial infection as the most likely cause of death in Tutankhamun. Walking impairment and malarial disease sustained by Tutankhamun is supported by the discovery of canes and an afterlife pharmacy in his tomb.

Conclusion Using a multidisciplinary scientific approach, we showed the feasibility of gathering data on Pharaonic kinship and diseases and speculated about individual causes of death.