MUTATION IN PHOSPHOLIPASE C, δ1 (PLCD1) GENE
UNDERLIES HEREDITARY LEUKONYCHIA IN A PASHTUN
FAMILY AND REVIEW OF THE LITERATURE Khan AK, Khan SA, Muhammad Na, Muhammad No,
Ahmad J, Nawaz H, Nasir A, Farman S, Khan S *Corresponding Author: Saadullah Khan, Ph.D., Department of Biotechnology & Genetic Engineering, Kohat University of
Science & Technology, Banu Road, Kohat 26000, Khyber Pakhtunkhwa, Pakistan. Tel: +92-333-506-8108. Fax: +92-0922-
554-556. E-mail: saadkhanwazir@gmail.com; saad@kust.edu.pk page: 69 download article in pdf format
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Abstract
Human hereditary leukonychia is a rare nail disorder
characterized by nail plates whitening on all finger and
toe nails. Inheritance pattern is both autosomal dominant
and recessive. To date, the only gene, phospholipase C, δ1
(PLCD1), on chromosome 3p22.2 has been reported to be
involved in hereditary leukonychia. In the present study, a
family of Pakhtun ethnicity, carrying leukonychia phenotype
was investigated. The family inherited the phenotype
in an autosomal dominant fashion. Affected individuals
exhibited characteristic features of hereditary leukonychia
with involvement of nails on both the hands and feet. Sequence
analysis of DNA detected a p.Cys209Arg mutation,
reported for the first time in a Pakistani Pashtun family.
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