摘要
目的分析一个晚期婴儿型异染性脑白质营养不良症家系的临床资料，了解该家系ARSA基因的突变特点以及基因型与临床表型的关系。方法收集家系临床资料，用PCR和DNA测序方法检测家系成员DNA的ARSA基因突变情况。结果先证者为男性，1岁7月起病，以行走不能为首发症状，11月内顺次丧失走、立、吞咽、咀嚼、言语、翻身和抓握等能力。外周血白细胞芳基硫酸酯酶A水平20．2nmol／mg．17h。头颅MRI显示大脑半球白质对称性脱髓鞘改变。基因分析发现先证者ARsA基因第3外显子发生了1个新的c．622delC（P．His208Metfs＊46）纯合突变，先证者的父母和祖母为该突变的携带者。结论晚期婴儿型异染性脑白质营养不良症患者以短期内迅速进展和加重的神经精神和运动发育倒退为主要临床表现。ARSA基因第3外显子的突变c．622delC（P．His208Metfs＊46）与异染性脑白质营养不良症的发生密切相关，可导致OO型症状。
Objective To study genotype-phenotype correlation of a family with late infantile metachromatic leukodystrophy（MLD）. Methods Clinical data were collected and ARSA gene was tested by PCR and sequencing in a pedigree. Results The male proband onset with walking dysfunction at 19 months, arylsulfatase A activity of leucocyte from his peripheral blood was 20. 2nmol/mg. 17h, and his cranial MRI showed wildly symmetrical demyelination. Homozygosis for novel c. 622delC （p. His208Metfs46X） in exon 3 of ARSA gene was identified in proband, and heterozygous for the same mutation in parents and grandma of the proband. Conclusion Late infantile metachromatic leukodystrophy is characterized by rapid and progressive regression of neuropsychiatric and motor development. There is a significant correlation between the mutation of c. 622delC（p. His208Metfs ＊ 46） in the ARSA gene and the phenotype presenting as O/O patients.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2014年第5期615-618,共4页
Chinese Journal of Medical Genetics
基金
NSFC-广东联合基金（U1032004）
国家科技支撑计划（2012BAI09800）
国家自然科学基金青年项目（81100938）
