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Mutation in Phospholipase C, δ1 (PLCD1) gene underlies hereditary leukonychia in a Pashtun family and review of the literature Cover

Mutation in Phospholipase C, δ1 (PLCD1) gene underlies hereditary leukonychia in a Pashtun family and review of the literature

Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 1 (June 2018)
By: AK Khan,  SA Khan,  Na Muhammad,  No Muhammad,  J Ahmad,  H Nawaz,  A Nasir,  S Farman and  S Khan  
Open Access
|Oct 2018
Figures & tables

Figures & Tables

Figure 1

(A) Pedigree of the family. (B) Phenotypes of affected members showing whitish color of the nails of both hands and feet.

Figure 2

Sequence analysis of the PLCD1 gene showing homozygous unaffected members and heterozygous affected ones (A). The predicted structure of wild-type PLCD1 protein (B). Zoom-up view of interaction pattern of wild type (C) and mutant type protein (D).

List of mutations in the PLCD1 gene reported so far_

MutationcDNAProteinEffectMode Inheritance ofReferences
Nonsensec. 1309C>Tp.Arg437*PTCAR4,5
Missensec.1792-10delTGTAGTGGCCFS and PTCAR4
Missensec.1720C>Tp.Ala574Thramino acid substitutionAD4
Missensec.625T>Cp.Cys209Argamino acid substitutionAD4; this study
Duplicationc2220-2223dupAGAGp. Ser740Argfs*19FS and PTCAR5
DOI: https://doi.org/10.2478/bjmg-2018-0001 | Journal eISSN: 2199-5761
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Language: English
Page range: 69 - 72
Published on: Oct 29, 2018
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Leukonychia,
Mutation,
Pashtun family,
Phospholipase C,
δ1 (PLCD1) gene
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2018 AK Khan, SA Khan, Na Muhammad, No Muhammad, J Ahmad, H Nawaz, A Nasir, S Farman, S Khan, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Volume 21 (2018): Issue 1 (June 2018)
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