两种新型 BTD 突变导致中国患者严重生物素酶缺乏症。
Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient.
机构信息
Medical Genetics Center, Southwest Hospital, Army Medical University, Chongqing, China.
Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, China.
出版信息
Mol Genet Genomic Med. 2021 Feb;9(2):e1591. doi: 10.1002/mgg3.1591. Epub 2021 Jan 16.
BACKGROUND
Biotinidase deficiency (OMIM 253260) is an autosomal recessively inherited disorder affecting about 1/60,000 people worldwide. The absence or deficiency of biotinidase impairs free biotin recycling and affects biotin-dependent carboxylase functions.
METHODS
A Chinese patient with spontaneous recurrent epilepsy, an eczema-like rash, hair loss, hypotonia, and hearing loss began at three months of age. Her biotinidase activity was 1.0 nmol/ml/min, 9.5% of the mean control activity, which confirmed profound biotinidase deficiency.
RESULTS
Compound heterozygous for c.250-1G > C and c.878dupT variants in the BTD gene were identified in this patient. These two variants were novel and absent in the population matched controls and any databases.
CONCLUSIONS
This study expanded the mutation spectrum of alterations of the BTD gene. Our patient also emphasized the critical role of biotinidase activity measurement combined with mutation analysis in early diagnosis of biotinidase deficiency.
背景
生物素酶缺乏症（OMIM 253260）是一种常染色体隐性遗传疾病，影响全球约 1/60000 的人。生物素酶的缺失或缺乏会损害游离生物素的再循环，并影响生物素依赖性羧化酶的功能。
方法
一位中国患者，从三个月大开始出现自发性复发性癫痫、湿疹样皮疹、脱发、低张力和听力损失。她的生物素酶活性为 1.0 nmol/ml/min，为正常对照活性的 9.5%，证实存在严重的生物素酶缺乏症。
结果
该患者在 BTD 基因中发现了 c.250-1G>C 和 c.878dupT 两种复合杂合变异，这两种变异均为新发现的，在匹配的人群对照和任何数据库中均不存在。
结论
本研究扩展了 BTD 基因突变谱。我们的患者还强调了生物素酶活性测量与突变分析相结合在早期诊断生物素酶缺乏症中的重要作用。
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