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Volume 12
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10.3390/genes12020295
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Article

Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins

by
Eman Rabie
1,2,
Khalda Amr
1,*,
Suher Zada
2,
Heba El-Sayed
3,
Mohamad El Darouti
4 and
Ghada El-Kamah
3,*
1
Medical Molecular Genetics Department, Human Genetics & Genome Research Division (HGGR), National Research Centre (NRC), Cairo 12622, Egypt
2
Biology Department, School of Sciences and Engineering, The American University in Cairo (AUC), Cairo 11835, Egypt
3
Clinical Genetics Department, HGGR, NRC, Cairo 12622, Egypt
4
Dermatology Department, Faculty of Medicine, Cairo University, Cairo 12613, Egypt
*
Authors to whom correspondence should be addressed.
Genes 2021, 12(2), 295; https://doi.org/10.3390/genes12020295
Submission received: 16 December 2020 / Revised: 8 February 2021 / Accepted: 9 February 2021 / Published: 20 February 2021
(This article belongs to the Special Issue Genetic Disease in Mediterranean Region)
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Abstract

Xeroderma pigmentosum is a rare autosomal recessive skin disorder characterized by freckle-like dry pigmented skin, photosensitivity, and photophobia. Skin and ocular symptoms are confined to sun exposed areas of the body. Patients have markedly increased risk for UV-induced skin, ocular, and oral cancers. Some patients develop neurodegenerative symptoms, including diminished tendon reflexes and microcephaly. In this study, we describe clinical and genetic findings of 36 XP patients from Egypt, a highly consanguineous population from North Africa. Thorough clinical evaluation followed by Sanger sequencing of XPA and XPC genes were done. Six novel and seven previously reported mutations were identified. Phenotype-genotype correlation was investigated. We report clinical and molecular findings consistent with previous reports of countries sharing common population structure, and geographical and historical backgrounds with implications on common ancestral origins and historical migration flows. Clinical and genetic profiling improves diagnosis, management, counselling, and implementation of future targeted therapies.
Keywords: xeroderma pigmentosum; rare diseases; novel mutations; migration flows xeroderma pigmentosum; rare diseases; novel mutations; migration flows

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MDPI and ACS Style

Rabie, E.; Amr, K.; Zada, S.; El-Sayed, H.; El Darouti, M.; El-Kamah, G. Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins. Genes 2021, 12, 295. https://doi.org/10.3390/genes12020295

AMA Style

Rabie E, Amr K, Zada S, El-Sayed H, El Darouti M, El-Kamah G. Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins. Genes. 2021; 12(2):295. https://doi.org/10.3390/genes12020295

Chicago/Turabian Style

Rabie, Eman, Khalda Amr, Suher Zada, Heba El-Sayed, Mohamad El Darouti, and Ghada El-Kamah. 2021. "Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins" Genes 12, no. 2: 295. https://doi.org/10.3390/genes12020295

APA Style

Rabie, E., Amr, K., Zada, S., El-Sayed, H., El Darouti, M., & El-Kamah, G. (2021). Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins. Genes, 12(2), 295. https://doi.org/10.3390/genes12020295

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