Genetic Disorders in the Arab World Qatar

Genetic and inherited disorders have accompanied humanity since its earliest existence. Many prehistoric and historic sites have revealed archeological remains with pathologies suggestive of inherited disorders. Paleopathology studies the identification of pathological conditions in ancient skeletal remains from many world sites revealed the presence of various hereditary or congenital conditions including Paget’s disease, neurofibromatosis, cleft lip and cleft palate, juvenile kyphosis (Scheuermann’s disease), scoliosis, spina bifida, achondroplasia, Hurler syndrome (mucopolysaccharidosis type I), Hunter’s syndrome, (mucopolysaccharidosis type II), Morquio’s syndrome (mucopolysaccharidosis type IV), osteogenesis imperfecta (types III and IV), cleidocranial dysostosis, osteopetrosis, diaphyseal sclerosis (Camuratoi-Engelmann disease), osteopoikilosis, and many others (reviewed in Ortner, 2003). One of the oldest of such records includes a 1.5 million year old fossil of a 2-year-old Homo erectus child with amelogenesis imperfecta (Zilberman et al., 2004). In Indonesia, the skeleton of a 25-30 year-old Homo floresiensis, discovered in 2003 on the island of Flores, featured a small skull that could be due to microcephaly (Jacob et al., 2006). In Egypt, scientific investigation of mummies from the huge necropolis of Thebes-West in Upper Egypt revealed osseous manifestations suggestive of metabolic and chronic anemia in high frequencies in populations of the “Middle Kingdom” (2050-1750 BCE; Nerlich et al., 2002). In addition, bizarre physical features were shared by many members of Egypt’s 18th Dynasty, including the Pharaoh Akhenaten, suggestive of possible familial disorders possibly including the aromatase excess syndrome, the sagittal craniosynostosis syndrome, or a variant of the Antley-Bixler syndrome (Braverman et al., 2009). Interestingly, ancient DNA analysis revealed a b-thalassemia mutation in the skeletal remains of an Ottoman child with severe porotic hyperostosis (Filon et al., 1995).