Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
Mol Genet Metab. 2010 Jan;99(1):34-41. doi: 10.1016/j.ymgme.2009.08.007.
OTC deficiency, a partially dominant X-linked trait, is the most frequent inborn error of the urea cycle. We describe a female patient with a contiguous gene deletion syndrome encompassing the OTC, DMD, RPGR, CYBB and XK genes, amongst others, only manifesting features of OTC deficiency. Molecular characterization was ascertained by MLPA and confirmed by CGH microarray, which revealed an 8.7 Mb deletion of the X-chromosome. Complete de novo deletion of the OTC gene led to a severe clinical phenotype in the proband. The application of high resolution molecular genetic techniques such as MLPA and array CGH, in mutation negative OTC cases allows the identification of chromosomal rearrangements, such as large deletions and provides information for accurate genetic counseling and prenatal diagnosis.
OTC 缺陷是一种部分显性 X 连锁遗传疾病，是尿素循环中最常见的先天代谢异常。我们描述了一名女性患者，她患有包含 OTC、DMD、RPGR、CYBB 和 XK 等基因的连续基因缺失综合征，仅表现出 OTC 缺陷的特征。分子特征通过 MLPA 确定，并通过 CGH 微阵列确认，显示 X 染色体缺失 8.7Mb。OTC 基因的完全从头缺失导致先证者出现严重的临床表型。高分辨率分子遗传学技术，如 MLPA 和 array CGH 的应用，在 OTC 突变阴性病例中可识别染色体重排，如大片段缺失，并为准确的遗传咨询和产前诊断提供信息。
