背景:Cockayne综合征(CS,OMIM#133540,#216400)是一种罕见的常染色体隐性遗传疾病,涉及多个系统,通常以小头畸形为特征,过早老化,生长迟缓,神经感觉异常,和光敏性。发病年龄与临床表型的严重程度有关,这可能导致致命的结果。
方法:我们报告了一个3岁的女孩,她有光敏感,步态异常,发育迟缓,和小头畸形,由于早期发病年龄的轻度临床表现而表现出不典型的临床分类。
结果:下一代测序揭示了移码突变(c.394_398del,p.Leu132Asnfs*6)和ERCC8的新颖微缺失(exon4del,p.Arg92fs)。
结论:因此,对临床表现不典型的CS患者进行下一代测序,这对于诊断和准确的遗传咨询至关重要。
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).
CONCLUSIONS: 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.