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首页> 外文期刊>Comparative and functional genomics >Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy
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Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy

机译：中国异色性白细胞营养不良患者中新型ARSA突变的鉴定

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Objective. Metachromatic leukodystrophy (MLD) is an inherited disease caused by a deficiency of the enzyme arylsulfatase A (ARSA) that leads to severe physiologic and developmental problems. Our study is aimed at elucidating the clinical and genetic characteristics of Chinese MLD patients. Methods. Clinical data of 21 MLD patients was collected. All coding exons of ARSA and their flanking intronic sequences were amplified by polymerase chain reaction and subjected to direct sequencing. Results. All 21 patients were diagnosed with MLD clinically and genetically, out of which 17 patients were late infantile and 4 were juvenile types. A total of 34 ARSA mutations, including 28 novel mutations (22 missense, 1 splicing, 1 nonsense, 3 small insertions, and 1 small deletion mutation) and 6 known mutations (5 missense and 1 small insertion mutation), were identified. Prenatal diagnosis was performed for four pedigrees. One fetus was a patient, two fetuses were carriers, and two were wild type. Conclusions. The present study discovered 28 novel ARSA mutations and widely expanded the mutation spectrum of ARSA. Four successful prenatal diagnoses provided critical information for MLD families.
机译：目的。变色性白细胞营养不良（MLD）是一种由芳基硫酸酯酶A（ARSA）酶缺乏引起的遗传性疾病，导致严重的生理和发育问题。我们的研究旨在阐明中国MLD患者的临床和遗传特征。方法。收集21例MLD患者的临床资料。通过聚合酶链反应扩增ARSA的所有编码外显子及其侧翼内含子序列，并进行直接测序。结果。所有21例患者均在临床和基因上被诊断为MLD，其中17例为晚期婴儿，4例为青少年。总共鉴定出34个ARSA突变，包括28个新突变（22个错义，1个剪接，1个无意义，3个小插入和1个小缺失突变）和6个已知突变（5个错义和1个小插入突变）。对四个家系进行了产前诊断。一名胎儿为患者，两名胎儿为携带者，两名为野生型。结论。本研究发现了28个新的ARSA突变，并广泛扩展了ARSA的突变谱。四个成功的产前诊断为MLD家庭提供了重要信息。

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