التفاصيل البيبلوغرافية
| العنوان: |
Variable clinical consequences of mosaicism for c.1167dupC in IKBKG in male and female patients with incontinentia pigmenti and related phenotypes. |
| المؤلفون: |
Acos, Roy Luister C, Chang, Yi-Han, Lin, Yu-Chen, Salazar-Paras, Dianne Katherine R, Fujimura, Yu, Nakano, Hajime, Akasaka, Eijiro, Natsuga, Ken, Guevara, Bryan Edgar K, McGrath, John A, Hsu, Chao-Kai |
| المصدر: |
Clinical & Experimental Dermatology; Mar2024, Vol. 49 Issue 3, p298-301, 4p |
| مصطلحات موضوعية: |
PATIENTS, MOSAICISM, PHENOTYPES, HYPERPIGMENTATION, HEREDITY, GENETIC variation |
| مستخلص: |
Incontinentia pigmenti (IP) is a rare genetic disorder characterized by skin lesions along the lines of Blaschko. Most patients with IP have a genetic deletion in the IKBKG gene, which is located on the X chromosome. Males with this deletion typically do not survive, while females can display a range of symptoms depending on X-inactivation. This study describes a duplication variant in the IKBKG gene found in two families with IP, resulting in different phenotypes in males and females. The findings suggest that mosaicism, or the presence of different genetic variations in different cells, can contribute to the expression of IKBKG-related disorders in males. [Extracted from the article] |
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| قاعدة البيانات: |
Complementary Index |
