Concise communications

DNA‐based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A

Article first published online: 04 Jun 2004
DOI: 10.1111/j.1365-2133.2004.05938.x

Comment on this article


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)

Share this article




If you want to submit a letter for publication rather than comment on an article please submit through Scholar One:

There are no comments for this article yet.

Recent Tweets


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. @eczemasociety @eczemasupport @EczemaOutreach @Wiley_Health


04 Dec 2019

The December issue of @BrJDermatol is out now!


04 Dec 2019

RT The British Association of Dermatologists @HealthySkin4All: You can stay up to date with all the latest research from the @BrJDermatol by reading the free plain language summaries of research online here:


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:


03 Dec 2019

Watch this video about developing and validating the PP-NRS (Peak Pruritus Numerical Rating Scale), a psychometric test for assessing the intensity of #itch in patients with #AtopicDermatitis :


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... 🔗