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首页> 外文期刊>The Application of Clinical Genetics >Novel?ATP7A?gene mutation in a patient with Menkes disease
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Novel?ATP7A?gene mutation in a patient with Menkes disease

机译：Menkes病患者的新型ATP7A基因突变

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Background: Menkes disease is a congenital neurodegenerative disorder caused by ATP7A gene mutations. Clinical features include epilepsy, growth delay, reduced muscle strength, skin laxity, abnormal hair, and urologic abnormalities. Case presentation: We describe an infant with developmental delay, neurologic degeneration, and kinky hair. Molecular test revealed a novel heterozygous mutation in exon 21 of the ATP7A gene. The genotype and phenotype of the patient were compared with those of the patients reported in the literature. Conclusion: We propose that this mutation caused a dysfunctional protein resulting in classical Menkes disease. This case adds to the spectrum of pathogenic variants of the ATP7A gene known to cause disease.
机译：背景：Menkes病是由ATP7A基因突变引起的先天性神经退行性疾病。临床特征包括癫痫，生长延迟，肌肉力量降低，皮肤松弛，头发异常和泌尿系统异常。病例介绍：我们描述了发育迟缓，神经系统变性和头发弯曲的婴儿。分子测试揭示了ATP7A基因第21外显子的新型杂合突变。将患者的基因型和表型与文献报道的患者的基因型和表型进行比较。结论：我们认为该突变导致功能失调的蛋白质导致经典的Menkes病。这种情况增加了已知会引起疾病的ATP7A基因的致病变异。

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