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
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INTRODUCTION
Initiation of nail differentiation and growth is started
round about the 9th week of gestation and its structure becomes
completed within the 5th month. In the begin-ning,
nails appear as a spot close to the 10th week of gestation,
which is similar to hair placode and increases in length
from distal to proximal end, the latter is converted into nail
fold due to the differentiation of nail stem cells that are present in the region of the proximal end. Nail is produced
by the matrix and grows over the nail bed [1].
As a result of matrix epithelial cell differentiation,
the mature nail plate grows continuously through life and
consists of a number of hard and soft keratin molecules
embedded in an amorphous matrix. Abnormal keratinization
of these matrix cells is considered to be responsible for
the white appearance of nails in hereditary leukonychia.
Most inherited nail disorders manifest either with nail
hypoplasia or nail hypertrophy [2].
Based on the distribution of the white tone, leukonychia
is classified into three different types. This includes
true leukonychia, with the involvement of the nail plate
originating in the matrix. In case of apparent leukonychia,
the nail matrix is normal, however, involving subungual tissue
causing alteration in the color of the overlying nail plate.
The third type is pseudo-leukonychia, when the matrix is not
responsible for the nail plate alteration. The nail plate is diseased
because of external factors such as fungal infection of
the nail. The true leukonychia is further separated into total
and subtotal or partial, the latter occur-ring as leukonychia
punctata, leukonychia striata, and leukonychia distal [3].
Hereditary leukonychia, characterized by whitening
of the nails was mapped to chromosome 3p21.3-p22 with
pathogenic mutations on the phospholipase C, δ1 (PLCD1)
gene [4-6]. In the study presented here, we investigated
a Pashto-speaking family from Lukki Marwat district of
Khyber Pakhtunkhwa Province, the western part of Pakistan,
segregating hereditary leukonychia in an autosomal
dominant manner. Based on phenotypes, direct sequence
analysis of the PLCD1 gene revealed a missense mutation.
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