通过多基因panel 检测进行下一代测序，以诊断一名中国非典型 Cockayne 综合征患者。
Next-generation sequencing through multi-gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome.
机构信息
Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Department of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
出版信息
Mol Genet Genomic Med. 2023 Nov;11(11):e2254. doi: 10.1002/mgg3.2254. Epub 2023 Aug 17.
BACKGROUND
Cockayne syndrome (CS, OMIM #133540, #216400) is a rare autosomal recessive disease involving multiple systems, typically characterized by microcephaly, premature aging, growth retardation, neurosensory abnormalities, and photosensitivity. The age of onset is related to the severity of the clinical phenotype, which may lead to fatal outcomes.
METHODS
We report a 3-year-old girl who presented with photosensitivity, gait abnormalities, stunting, and microcephaly and showed atypical clinical classification due to mild clinical manifestations at an early onset age.
RESULTS
Next-generation sequencing reveals the frameshift mutation (c.394_398del, p.Leu132Asnfs*6) and a novel microdeletion of ERCC8 (exon4del, p.Arg92fs).
CONCLUSION
Therefore, it is still necessary to carry out next-generation sequencing for CS patients with atypical clinical manifestations, which is essential for diagnosis and accurate genetic counseling.
背景
Cockayne 综合征（CS，OMIM#133540，#216400）是一种罕见的常染色体隐性疾病，涉及多个系统，通常表现为小头畸形、早衰、生长迟缓、神经感觉异常和光敏感性。发病年龄与临床表型的严重程度有关，可能导致致命后果。
方法
我们报告了一名 3 岁女孩，她表现出光敏感性、步态异常、发育迟缓、小头畸形，并因早期发病时临床表现较轻而表现出非典型的临床分类。
结果
下一代测序显示移码突变（c.394_398del，p.Leu132Asnfs*6）和 ERCC8 的新型微缺失（exon4del，p.Arg92fs）。
结论
因此，对于具有非典型临床表现的 CS 患者，仍有必要进行下一代测序，这对于诊断和准确的遗传咨询至关重要。
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