Article first published online: 04 Jun 2004
Background Xeroderma pigmentosum (XP) is a group of autosomal recessive diseases characterized by hypersensitivity to ultraviolet rays. Among its eight complementation groups, XP group A (XPA) is the most severe type. The XPAC gene has been identified as the defective gene in XPA patients.
Objectives To examine genomic DNA from a Chinese family with XPA, to determine the XPAC mutation and, after genetic counselling, to undertake DNA‐based prenatal diagnosis in a subsequent pregnancy.
Methods Fetal DNA was extracted from amniotic fluid and used to amplify exon 5 of XPAC containing the potential mutation. Direct sequencing and restriction endonuclease digestion were used for prenatal diagnosis.
Results We identified a homozygous nonsense XPAC mutation of 631C→T, which results in an R211X mutation in XPA protein, in the proband. Both her parents are heterozygous. Prenatal diagnosis demonstrated a heterozygous sequence predicting an unaffected child, and a healthy girl was born.
Conclusions These data provide the first example of a DNA‐based prenatal test for genodermatosis in China.Read moreRead more (PDF)
05 Dec 2019
RT The British Association of Dermatologists @HealthySkin4All: The authors of this @BrJDermatol study have described factors which could help doctors to identify children with eczema at a higher risk of eczema continuing into adulthood. https://t.co/ZNNzE7iZ4h @eczemasociety @eczemasupport @EczemaOutreach @Wiley_Health https://t.co/2ADGsWtDAY
04 Dec 2019
04 Dec 2019
In #psoriasis how does the #microbiome differ in #lesional skin compared to normal skin and controls? Results from standard culture and 16S RNA sequencing: https://t.co/5IvWYjltcn https://t.co/abvf9cbvUl
03 Dec 2019
RT EPI-PHARE @EPIPHARE: Des membres d'EPI-PHARE ont publié un article dans British Journal of Dermatology [EN] New article from EPI-PHARE members in @BrJDermatol ➡️ Persistence of treatment with conventional systemic agents for patients with #psoriasis... 🔗 https://t.co/WKcPUhs4Io https://t.co/0GDaE7byHy