Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A

Abstract There are two genetics complementary groups Cockayne syndrome type A and B (CS-A and CS-B OMIM 216400, 133540), which is a rare autosomal recessive segmental progeroid syndrome. Homozygous or compound heterozygous mutations in the excision repair cross-complementation group 8 gene (ERCC8) r...

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Autores principales:	Xiaozhu Wang, Yu Huang, Ming Yan, Jiuwei Li, Changhong Ding, Hong Jin, Fang Fang, Yanling Yang, Baiyan Wu, Dafang Chen
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/278836e6d2f0445d842423f8b3b59bd9
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spelling	oai:doaj.org-article:278836e6d2f0445d842423f8b3b59bd92021-12-02T15:06:07ZMolecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A10.1038/s41598-017-14034-32045-2322https://doaj.org/article/278836e6d2f0445d842423f8b3b59bd92017-10-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-14034-3https://doaj.org/toc/2045-2322Abstract There are two genetics complementary groups Cockayne syndrome type A and B (CS-A and CS-B OMIM 216400, 133540), which is a rare autosomal recessive segmental progeroid syndrome. Homozygous or compound heterozygous mutations in the excision repair cross-complementation group 8 gene (ERCC8) result in CS-A, and mutations in ERCC6 result in CS-B. Homozygous ERCC6/ERCC8 mutations also result in UV-sensitive syndrome. In this study, twenty-one Han Chinese patients with CS were investigated to identify mutations in ERCC8/ERCC6, of which thirteen cases with CS-A were identified with the mutations of ERCC8. There are five types mutations of ERCC8 in our study, such as exon 4 rearrangement, c.394_398delTTACA, c.299insA, c.843 + 2 T > C, and c.2 T > A. An estimated frequency of exon 4 rearrangement accounts for 69.23% and c.394_398delTTACA accounts for 11.53% in our cohort. Haplotype analysis revealed that the exon 4 rearrangement and c.394_398delTTACA mutations originated from a common founder in the Chinese population respectively. With the identification of three novel ERCC8 mutations, this study expanded the molecular spectrum of known ERCC8 defects, and furthermore, suggests that the exon 4 rearrangement and c.394_398delTTACA mutations may be a common underlying cause of CS-A in the Chinese population, which is different from that in other populations.Xiaozhu WangYu HuangMing YanJiuwei LiChanghong DingHong JinFang FangYanling YangBaiyan WuDafang ChenNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Xiaozhu Wang Yu Huang Ming Yan Jiuwei Li Changhong Ding Hong Jin Fang Fang Yanling Yang Baiyan Wu Dafang Chen Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A
description	Abstract There are two genetics complementary groups Cockayne syndrome type A and B (CS-A and CS-B OMIM 216400, 133540), which is a rare autosomal recessive segmental progeroid syndrome. Homozygous or compound heterozygous mutations in the excision repair cross-complementation group 8 gene (ERCC8) result in CS-A, and mutations in ERCC6 result in CS-B. Homozygous ERCC6/ERCC8 mutations also result in UV-sensitive syndrome. In this study, twenty-one Han Chinese patients with CS were investigated to identify mutations in ERCC8/ERCC6, of which thirteen cases with CS-A were identified with the mutations of ERCC8. There are five types mutations of ERCC8 in our study, such as exon 4 rearrangement, c.394_398delTTACA, c.299insA, c.843 + 2 T > C, and c.2 T > A. An estimated frequency of exon 4 rearrangement accounts for 69.23% and c.394_398delTTACA accounts for 11.53% in our cohort. Haplotype analysis revealed that the exon 4 rearrangement and c.394_398delTTACA mutations originated from a common founder in the Chinese population respectively. With the identification of three novel ERCC8 mutations, this study expanded the molecular spectrum of known ERCC8 defects, and furthermore, suggests that the exon 4 rearrangement and c.394_398delTTACA mutations may be a common underlying cause of CS-A in the Chinese population, which is different from that in other populations.
format	article
author	Xiaozhu Wang Yu Huang Ming Yan Jiuwei Li Changhong Ding Hong Jin Fang Fang Yanling Yang Baiyan Wu Dafang Chen
author_facet	Xiaozhu Wang Yu Huang Ming Yan Jiuwei Li Changhong Ding Hong Jin Fang Fang Yanling Yang Baiyan Wu Dafang Chen
author_sort	Xiaozhu Wang
title	Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A
title_short	Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A
title_full	Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A
title_fullStr	Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A
title_full_unstemmed	Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A
title_sort	molecular spectrum of excision repair cross-complementation group 8 gene defects in chinese patients with cockayne syndrome type a
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/278836e6d2f0445d842423f8b3b59bd9
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_version_	1718388567215964160

Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A

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