Medical Molecular Genetics Department, Human Genetics & Genome Research Division (HGGR), National Research Centre (NRC), Cairo 12622, Egypt.
Biology Department, School of Sciences and Engineering, The American University in Cairo (AUC), Cairo 11835, Egypt.
Genes (Basel). 2021 Feb 20;12(2):295. doi: 10.3390/genes12020295.
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 and 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.
着色性干皮病是一种罕见的常染色体隐性皮肤疾病，其特征为雀斑样干燥色素沉着皮肤、光敏感性和畏光。皮肤和眼部症状局限于身体暴露于阳光的区域。患者罹患 UV 诱导的皮肤、眼部和口腔癌症的风险显著增加。一些患者出现神经退行性症状，包括腱反射减弱和小头畸形。在这项研究中，我们描述了来自北非高度近亲结婚人群的埃及 36 名 XP 患者的临床和遗传发现。进行了彻底的临床评估，然后对 和 基因进行 Sanger 测序。鉴定出 6 个新的和 7 个先前报道的突变。研究了表型-基因型相关性。我们报告了与具有共同人口结构、地理和历史背景的国家的先前报告一致的临床和分子发现，这对共同的祖先起源和历史迁徙流具有影响。临床和遗传特征分析可改善诊断、管理、咨询和未来靶向治疗的实施。
