安杰曼综合征:身体和学习障碍的遗传挑战

B. K. Alias, Lini K. Simon
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摘要

安杰尔曼综合症(AS)由哈里-安杰尔曼博士于 1965 年首次报道。它是一种神经发育疾病,特征是缺乏语言、行为独特、癫痫发作、智力低下和性格开朗。强直性脊柱炎的病因是位于 15q11-q13 染色体上的母体印记基因(UBE3A)产生不足。强直性脊柱炎的并发症有斜视、视神经萎缩和失明,但很少有报道。强直性脊柱炎的实验室诊断检测可能会出现并发症。一种方法是通过 DNA 甲基化分析评估 AS/Prader-Willi 综合征(PWS)的印记中心(IC)。在细胞遗传学分析中,至少有50%-60%的患者存在由母体诱发的15q11-13染色体从头突变,并伴有更严重的临床表型,如小头畸形、癫痫发作、语言障碍和运动障碍。在某些病例中,可通过阵列比较基因组杂交(CGH)鉴定出多序列或全基因缺失,实验室和方法可能会对这类缺失有所改变。走路前动作不稳可提示强直性脊柱炎的诊断。根据患者的病史、脑电图(EEG)数据、临床症状以及是否存在 50 号染色体缺失,可做出强直性脊柱炎的诊断。据估计,强直性脊柱炎的发病率约为每 12,000-20,000 名新生儿中就有 1 例,但预期寿命的流行病学测量结果仍不清楚。强直性脊柱炎表型的临床特征包括癫痫发作、睡眠障碍、智力障碍、运动障碍(如震颤和共济失调)、焦虑、语言表达能力受限、行为改变、举止愉悦、容易受人摆布地大笑,约 100%的患者发现脑电图异常。研究人员发现了注射部位因药物剂量增大而引起的炎症问题,作为额外的安全预防措施,他们对患者血液和脑脊液中的蛋白质进行了监测。为有一名强直性脊柱炎患儿的家庭提供遗传咨询,以解决复发的可能性,这可能是一个具有挑战性的课题,经常需要专家的建议。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Angelman syndrome: A genetic challenge for physical and learning disabilities
Angelman syndrome (AS) was first reported in 1965 by Dr. Harry Angelman. It is a condition of neurodevelopment characterized by, a lack of speech, distinctive behavior, seizure, intellectual capacity, and cheerful disposition. The cause of AS is a lack of production by maternal imprinted genes (UBE3A) on the 15q11-q13 chromosome. The complications of AS are strabismus, atrophy of the optical nerve, and blindness, which are rarely reported. There is a possibility of complications in the laboratory diagnostic tests for AS. One method is to evaluate with DNA methylation analysis of AS/Prader-Willi Syndrome (PWS) imprinting center (IC). On cytogenetic analysis, at least 50–60% of patients had a maternally induced de novo mutation of chromosome 15q11-13 with more serious clinical phenotypes such as microcephaly, seizures, language impairment, and motor difficulties. Multiexonic or whole gene deletion is identified by array-comparative genomic hybridisation (CGH) in some cases and laboratory and methodology may vary such deletions. Diagnosis of AS can be suggested by unsteady movements before walking. Based on the patient’s medical history, electroencephalogram (EEG) data, clinical symptoms, and the presence or absence of a chromosome 50 deletion, a diagnosis of AS is made. Incidence estimated for AS is approximately 1 in 12,000–20,000 birth lives, but the epidemiological measures of life expectancy remains unknown. The clinical features of AS phenotype include seizures, sleep disturbance, intellectual disability, and movement disorders such as tremor and ataxia, anxiety, expressive language is limited, behavioral changes, pleasant demeanor, and easily manipulated laughs, EEG abnormalities were discovered in around 100% of the patients. The researcher identified problems with inflammation at the injection site caused by a higher dose of a drug and they monitored proteins in the individual’s blood and cerebrospinal fluid as an additional safety precaution. Genetic counseling for families with one child with AS to address the likelihood of recurrence can be a challenging subject that frequently requires specialist advice.
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