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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

Figure 1

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

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