Article
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2012
Cabral Wayne A, Barnes Aileen M, Adeyemo Adebowale, Cushing Kelly, Chitayat David, Porter Forbes D, Panny Susan R, Gulamali-Majid Fizza, Tishkoff Sarah A, Rebbeck Timothy R, Gueye Serigne M, Bailey-Wilson Joan E, Brody Lawrence C, Rotimi Charles N, Marini Joan C
Abstract excerpt
PURPOSE: Deficiency of prolyl 3-hydroxylase 1, encoded by LEPRE1, causes recessive osteogenesis imperfecta (OI). We previously identified a LEPRE1 mutation exclusively in African Americans and contemporary West Africans. We hypothesized that this allele originated in West Africa and was introduced to the Americas with the Atlantic slave trade. We aimed to determine the frequency of carriers for this mutation...
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