Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients

Eray Yihui Zhou; Huijun Wang; Zhimiao Lin; Guiwen Xu; Zhihong Ma; Jiahui Zhao; Cheng Feng; Lina Duo; Jinghua Yin; Yong Yang

doi:10.1111/1346-8138.13576

Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients

J Dermatol. 2017 Jan;44(1):71-75. doi: 10.1111/1346-8138.13576. Epub 2016 Sep 8.

Authors

Eray Yihui Zhou^{1

2

3}, Huijun Wang^{1

2

4

5}, Zhimiao Lin^{1

2}, Guiwen Xu^{1

2}, Zhihong Ma^{1

2}, Jiahui Zhao^{1

2}, Cheng Feng^{1

2}, Lina Duo^{1

2

4}, Jinghua Yin^{1

2}, Yong Yang^{1

2

4}

Affiliations

¹ Department of Dermatology, Peking University First Hospital, Beijing, China.
² Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
³ Department of Dermatology, Beijing Tsinghua Changgung Hospital, Medical Center, Tsinghua University, Beijing, China.
⁴ Peking-Tsinghua Center for Life Sciences, Beijing, China.
⁵ Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, China.

PMID: 27607234
DOI: 10.1111/1346-8138.13576

Abstract

Xeroderma pigmentosum (XP) is a rare genetic disorder which is divided into eight complementation groups: XP-A to XP-G and XP-V. Some XP patients demonstrate severe cutaneous and neurological manifestations, management of which requires timely diagnosis and intervention. We performed clinical evaluation and genetic analysis on 19 patients, the largest cohort of XP to date in China. Twenty-three mutations from six groups were identified, 16 of which were novel. All patients developed marked freckle-like pigmentation on sun-exposed sites while patients with XP-A, XP-D, XP-F and XP-G showed acute sunburn reactions. Only XP-A patients displayed progressive neurological degeneration. A relatively larger proportion of XP-A and XP-C were found in Chinese XP patients. One XP case and two carriers were prenatally determined. This study extended the mutation spectrum of XP in China and may aid in the diagnosis and treatment of Chinese XP patients.

Keywords: Chinese population; complementation group; novel mutation; prenatal diagnosis; xeroderma pigmentosum.

MeSH terms

Adult
Amniotic Fluid
Asian People / genetics
Child
Child, Preschool
China / epidemiology
DNA Mutational Analysis*
DNA-Binding Proteins / genetics
DNA-Directed DNA Polymerase / genetics
Endonucleases / genetics
Epidemiologic Studies
Female
Heterozygote
Humans
Infant
Infant, Newborn
Male
Mutation
Nuclear Proteins / genetics
Pregnancy
Prenatal Diagnosis*
Skin Neoplasms / diagnosis
Skin Neoplasms / genetics*
Transcription Factors / genetics
Xeroderma Pigmentosum / blood
Xeroderma Pigmentosum / diagnosis
Xeroderma Pigmentosum / epidemiology*
Xeroderma Pigmentosum / genetics*
Xeroderma Pigmentosum Group A Protein / genetics
Xeroderma Pigmentosum Group D Protein / genetics
Young Adult

Substances

DNA excision repair protein ERCC-5
DNA-Binding Proteins
Nuclear Proteins
Transcription Factors
XPA protein, human
Xeroderma Pigmentosum Group A Protein
xeroderma pigmentosum group F protein
XPC protein, human
DNA-Directed DNA Polymerase
Rad30 protein
Endonucleases
Xeroderma Pigmentosum Group D Protein
ERCC2 protein, human

Associated data

GENBANK/NM_000380.3
GENBANK/NM_004628.4
GENBANK/NM_000400.3
GENBANK/NM_005236.2
GENBANK/NM_000123.3
GENBANK/NM_006502.2