Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.
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.
Department of Dermatology, Peking University First Hospital, Beijing, China.|Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.|Department of Dermatology, Beijing Tsinghua Changgung Hospital, Medical Center, Tsinghua University, Beijing, China.
Eray Yihui
http://orcid.org/0000-0002-3379-3858
EY
Zhou
Department of Dermatology, Peking University First Hospital, Beijing, China.|Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.|Peking-Tsinghua Center for Life Sciences, Beijing, China.|Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, China.
Huijun
H
Wang
Department of Dermatology, Peking University First Hospital, Beijing, China.|Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
Zhimiao
Z
Lin
Department of Dermatology, Peking University First Hospital, Beijing, China.|Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
Guiwen
G
Xu
Department of Dermatology, Peking University First Hospital, Beijing, China.|Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
Zhihong
Z
Ma
Department of Dermatology, Peking University First Hospital, Beijing, China.|Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
Jiahui
J
Zhao
Department of Dermatology, Peking University First Hospital, Beijing, China.|Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
Cheng
C
Feng
Department of Dermatology, Peking University First Hospital, Beijing, China.|Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.|Peking-Tsinghua Center for Life Sciences, Beijing, China.
Lina
L
Duo
Department of Dermatology, Peking University First Hospital, Beijing, China.|Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
Jinghua
J
Yin
Department of Dermatology, Peking University First Hospital, Beijing, China.|Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.|Peking-Tsinghua Center for Life Sciences, Beijing, China.
Yong
Y
Yang
D000328:Adult; D000653:Amniotic Fluid; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D004259:DNA-Directed DNA Polymerase / Q000235:genetics; D004720:Endonucleases / Q000235:genetics; D016021:Epidemiologic Studies; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics; D014983:Xeroderma Pigmentosum / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D051760:Xeroderma Pigmentosum Group A Protein / Q000235:genetics; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics; D055815:Young Adult; D000099250:DNA Excision Repair Protein ERCC-5; D000099270:Y-Family DNA Polymerases
D004268:DNA-Binding Proteins; D004259:DNA-Directed DNA Polymerase; D004720:Endonucleases; D009687:Nuclear Proteins; D014157:Transcription Factors; D051760:Xeroderma Pigmentosum Group A Protein; D051759:Xeroderma Pigmentosum Group D Protein; D000099250:DNA Excision Repair Protein ERCC-5; C497314:XPA protein, human; C095888:xeroderma pigmentosum group F protein; C086984:XPC protein, human; C112338:Rad30 protein; D000099270:Y-Family DNA Polymerases; C497292:ERCC2 protein, human
Chinese population; complementation group; novel mutation; prenatal diagnosis; xeroderma pigmentosum