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

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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