Mutation in Phospholipase C, Delta-1 (PLCD1) gene underlies hereditary leukonychia in a Pashtun family and review of the literature
Anwar Kamal Khan1, Sher Alam Khan1, Nazif Muhammad1, Noor Muhammad1, Jamshaid Ahmad2, Hamed Nawaz1, Abdul Nasir3, Saira Farman4, Saadullah Khan1,
*Corresponding Author: Department of Biotechnology & Genetic Engineering, Kohat University of Science & Technology, Kohat 26000, Khyber Pakhtunkhwa, Pakistan Email: saadkhanwazir@gmail.com saad@kust.edu.pk Phone: +92-333-5068108
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Abstract

Human Hereditary leukonychia is a rare nail disorder characterized by nail plates whitening in all fingers and toes nails. Inheritance pattern is both autosomal dominant and recessive. To date, the only gene, Phospholipase C, Delta-1 (PLCD1), lying on chromosome 3p22.2 has been reported to be involved in hereditary leukonychia. In the present study, a Pakhtun origin family, harboring leukonychia phenotype was investigated. The family inherited the phenotype in autosomal dominant fashion. Affected individuals exhibited characteristic features of hereditary leukonychia with involvement of nails on both the hands and feet. Sequence analysis of the DNA detected ‘p.Cys209Arg’ mutation, reported for the first time in Pakistani Pashtun family.



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