A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

Naheed Sajjad¹ , Ingrid Goebel^2,3 , Naseebullah Kakar¹ , Abdul Majeed Cheema¹ , Christian Kubisch^2,3 and Jamil Ahmad¹

¹  Faculty of Biotechnology and Informatics, BUITEMS, Quetta, Pakistan

²  Institute of Human Genetics, University of Cologne, Cologne, Germany

³  Institute for Genetics, University of Cologne, Cologne, Germany