Mutations of a Country: A Mutation Review of Single Gene Disorders in the United Arab Emirates (UAE)

作者：Al Gazali Lihadh^*; Ali Bassam R

来源：Human Mutation, 2010, 31(5): 505-520.

DOI：10.1002/humu.21232

• Arab
• Database
• UAE
• dysmorphology

The United Arab Emirates inhabitants are ethnically diverse, with ancestries from Arabia, Persia, Baluchistan, and Africa. However, the majority of the current five million inhabitants are expatriates from the Asian subcontinent, Middle Eastern, African, and European countries. Consanguineous marriages within most UAE subpopulations are still the norm, leading to the formation of isolates and higher frequencies of recessive conditions. The UAE is ranked sixth in terms of prevalence of birth defects, with more than 270 genetic disorders reported in the national population. The UAE has high frequencies of blood disorders including thalassemias, sickle cell disease, and G6PD. In addition, certain genetic conditions are relatively common including cystic fibrosis, Joubert, and Meckel syndromes. Furthermore, numerous rare congenital malformations and metabolic disorders have been reported. We review the single gene disorders that have been studied at the molecular level in the UAE (which currently stand at 76) and compile the mutations found. Several novel (p.S2439fs) mutations have been reported including c.7317delA in NF1, c.5C > T (p.A2V) in DKC1, c.1766T > A (p.I589N) in TP63, and c.2117G > T (p.R706L) in VLDLR. We hope that this review will form the basis to establish a UAE mutations database and serve as a model for the collection of mutations of a country. Hum Mutat 31:505-520, 2010.

• 出版日期2010-5