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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REFERENCES
1. Dawber R, de Berker D, Baran R. Diseases of the
Nails and Their Management, 4th ed. Oxford, Oxfordshire,
UK: Blackwell Science Ltd., 2004.
2. Sprecher E. Genetic hair and nail disorders. Clin Dermatol.
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3. Baran R, Dawber RPR, de Berker DAR, Haneke E,
Tosti A. Diseases of the Nails and their Management,
3rd ed. Oxford, Oxfordshire, UK: Blackwell Science
Ltd., 2001.
4. Kiuru M, Kurban M, Itoh M, Petukhova L, Shimomura
Y, Wajid M, et al. Hereditary leukonychia, or
porcelain nails, resulting from mutations in PLCD1.
Am J Hum Genet. 2011; 88(6): 839-844.
5. Mir H, Khan S, Arif MS, Ali G, Wali A, Ansar M, et
al. Mutations in the gene phospholipase C, delta-1
(PLCD1) underlying hereditary leukonychia. Eur J
Dermatol. 2012; 22(6): 736-739.
6. Farooq M, Kurban M, Abbas O, Obeidat O, Fujikawa
H, Kibbi AG, et al. A novel mutation in the PLCD1
gene, which leads to an aberrant splicing event, underlies
autosomal recessive leuconychia. Br J Dermatol.
2012; 167(4): 946-949.
7. Molecular Operating Environment (MOE), 2013.08;
Chemical Computing Group Inc., Montreal, QC,
Canada, 2016.
8. Rice RH, Xia Y, Alvarado RJ, Phinney BS. Proteomic
analysis of human nail plate. J Proteome Res. 2010;
9(12): 6752-6758.
9. Nakamura Y, Ichinohe M, Hirata M, Matsuura H,
Fujiwara T, Igarashi T, et al. Phospholipase C-delta1
is an essential molecule downstream of Foxn1, the
gene respon-sible for the nude mutation, in normal
hair development. FASEB J. 2008; 22(3): 841-849.
10. Auricchio L, Adriani M, Frank J, Busiello R, Christiano
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mutation of the nude/SCID human FOXN1
(WHN) gene. Arch Dermatol. 2005; 141(5): 647-648.
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