title: Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome.
abstract: The Cockayne syndrome is a rare autosomal recessive disease characterized by a general developmental delay, the unique face, and abnormal skin sensitivity to sunlight. It belongs to the family of disorders of the nucleotide excision repair system. Mutations of the ERCC6 and ERCC8 genes are the predominant cause of the Cockayne syndrome, whereby the ERCC6 gene mutation makes up approximately 70% of the cases. We report a Chinese case of a classic Cockayne syndrome, carrying the novel nonsense mutation c.1387C>T/Q463X in the ERCC6 gene in an apparently homozygous status. This mutation was found in a heterozygous status in this patient's father, while the mother carried two wild-type ERCC6 alleles. A further molecular investigation of the family revealed that there was a de novo microdeletion including the ERCC6 gene of maternal origin in the proband. The determination of the deletion breakpoints by Illumina genome-wide DNA analysis beadchip showed that the deletion spanned 2.82 Mb in size. This case adds to the mutation spectrum of this DNA repair disorder.
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China. huiwenzhang@yahoo.com
authors.forename: Huiwen
authors.initials: H
authors.lastname: Zhang
authors.forename: Jialin
authors.initials: J
authors.lastname: Gao
authors.forename: Jun
authors.initials: J
authors.lastname: Ye
authors.forename: Zhuwen
authors.initials: Z
authors.lastname: Gong
authors.forename: Xuefan
authors.initials: X
authors.lastname: Gu
mesh_terms: D001483:Base Sequence; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D003057:Cockayne Syndrome / Q000175:diagnosis / Q000235:genetics*; D004265:DNA Helicases / Q000235:genetics*; D045643:DNA Repair Enzymes / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D007223:Infant; D018895:Microsatellite Repeats / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D000075223:Poly-ADP-Ribose Binding Proteins; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: D000075223:Poly-ADP-Ribose Binding Proteins; D004265:DNA Helicases; C078673:ERCC6 protein, human; D045643:DNA Repair Enzymes