A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta

@article{Cabral2012AFM,
  title={A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta},
  author={Wayne Anthony Cabral and Aileen M. Barnes and Adebowale Adeyemo and Kelly Cushing and David C Chitayat and Forbes D Porter and Susan R. Panny and Fizza Gulamali-Majid and Sarah A Tishkoff and Timothy R. Rebbeck and Serigne Magu{\`e}ye Gueye and Joan E. Bailey-Wilson and Lawrence C. Brody and Charles N Rotimi and Joan C. Marini},
  journal={Genetics in Medicine},
  year={2012},
  volume={14},
  pages={543-551}
}
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 among African Americans and West Africans, and the mutation origin and age.Methods… CONTINUE READING