Individualized medicine enabled by genomics in Saudi Arabia

BMC Medical Genomics

Table 1 An overview of the main genetic and chromosomal disorder in Saudi Arabia and their relationship with consanguinity. (++): High correlation; (+): Positive correlation; ND: Not Determined.

Type	Disease	Disease prevalence* (%)	Consanguinity	References
Chromosomal	Down syndrome	1.8	ND	[172]
	Congenital Malformations or birth defects	2- 3	++	[12, 13, 173]
Polygenic and/or multifactorial	Congenital heart disease (CHD)	5.4-10.7	+	[15, 174, 175]
	Cystic fibrosis	0.24	++	[176]
	Duchene muscular dystrophy (DMD)	0.025	+	[177]
	Hereditary Recessive deafness	130	++	[178–180]
	Hereditary blindness & visual impairment	90	++	[181, 182]
	Diabetes mellitus	110 to 237	ND	[183, 184]
	Thalassemia	0.5 to 2.6	++	[185–188]
Monogenic	Sickle Cell Disease (SCD)	9 to 14.5	++	[185, 187, 189–192]
	G6PD deficiency	7.7 to 20	++	[12, 193, 194]

ISSN: 1755-8794