Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family

He,Chunxia; Sun,Mao; Wang,Guoxia; Yang,Ying; Yao,Libo; Wu,Yuanming

doi:10.3892/mmr.2017.6487

Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family

Authors:
- Chunxia He
- Mao Sun
- Guoxia Wang
- Ying Yang
- Libo Yao
- Yuanming Wu
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Affiliations: Institute of Basic Translational Medicine, Xi'an Medical University, Xi'an, Shaanxi 710021, P.R. China, Department of Biochemistry and Molecular Biology, Center for DNA Typing, Fourth Military Medical University, Xi'an, Shaanxi 710032, P.R. China
Published online on: April 20, 2017 https://doi.org/10.3892/mmr.2017.6487
Pages: 3957-3962
Copyright: © He et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized principally by progressive growth failure, neurologic abnormality and premature aging. Mutations of excision repair cross‑complementation group 6 (ERCC6) and ERCC8 are predominantly responsible for CS, of which mutation of ERCC6 accounts for approximately two thirds of cases. The current report describes two siblings with severe neurologic abnormality and premature aging. Whole exome sequencing identified two novel mutations in ERCC6 that had not been previously reported. One was a nonsense mutation at codon 612 in exon 9 (c.1834C>T, p.Arg612Ter), and the other a missense mutation at codon 975 in exon 16 (c.2923C>T, p.Arg975Trp). Cosegregation analysis revealed c.1834C>T was paternal and c.2923C>T was maternal. A healthy baby with no mutated alleles was delivered based on prenatal diagnosis performed by genetic testing of amniocytes for the causative mutation. The present study will enrich the clinical and genetic spectrum of CS in China and world wide, and provides more evidence for future genotype‑phenotype studies.

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