A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome

• Published in: Scientific reports Vol. 7; no. 1; p. 44271
• Main Authors: Xie, Hua, Li, Xiaoyan, Peng, Jiping, Chen, Qian, Gao, ZhiJie, Song, Xiaozhen, Li, WeiYu, Xiao, Jianqiu, Li, Caihua, Zhang, Ting, Gusella, James F., Zhong, Jianmin, Chen, Xiaoli
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 23.03.2017; Nature Publishing Group
• Subjects: 631/208/2489/1512; 692/308/2056; Adolescent; Asian Continental Ancestry Group; Base Sequence; Breakpoints; Child, Preschool; Cockayne syndrome; Cockayne Syndrome - diagnosis; Cockayne Syndrome - ethnology; Cockayne Syndrome - genetics; Cockayne Syndrome - pathology; Comparative Genomic Hybridization; DNA Repair Enzymes - deficiency; DNA Repair Enzymes - genetics; Exons; Female; Gene Expression; Genetic screening; Hereditary diseases; Heterozygosity; Humanities and Social Sciences; Humans; Hybridization; Male; Middle Aged; multidisciplinary; Neurological complications; Pedigree; Phenotype; Physical growth; Polymerase chain reaction; RNA Splicing; Science; Sequence Deletion; Siblings; Splicing; Transcription Factors - deficiency; Transcription Factors - genetics; Whole Exome Sequencing

Cockayne syndrome is an autosomal recessive disorder principally characterized by postnatal growth failure and progressive neurological dysfunction, due primarily to mutations in ERCC6 and ERCC8. Here, we report our diagnostic experience for two patients in a Chinese family suspected on clinical gro...