Novel mutations in children with profound biotinidase deficiency from Saudi Arabia.
Novel mutations in children with profound biotinidase deficiency from Saudi Arabia.
复制标题
沙特阿拉伯严重生物素酶缺乏症儿童的新突变。
DOI：
10.1023/a:1005626102147
复制
发表时间：
2000
影响因子：
4.2
通讯作者：
Wolf,B
中科院分区：
文献类型：
--
作者：
Pomponio,RJ;Ozand,PT;AlEssa,M;Wolf,B
生物素酶缺乏症（McKusick 253620）是一种常染色体Recombinant遗传性生物素代谢疾病（Wolf et al 1983）。生物素酶（EC 3.5. 1.12）从内源性和饮食来源中清除维生素生物素（Wolf 1995）。具有严重生物素酶缺陷的症状儿童可通过生物素改善（Wolf，1995）。人生物素酶cDNA（BTD，GenBank U 03274，AF 018630，AF 018631）已被分离和测序（科尔等1994），该基因的基因组结构已被确定（Knight等1998）。对来自美国的严重生物素酶缺乏症儿童的DNA进行突变分析，发现了40多种导致生物素酶缺乏症的不同突变（Norrgard et al 1999; Pomponio et al 1997）。我们对来自沙特阿拉伯的8个家庭的10名具有严重生物素酶缺陷（平均血清生物素酶活性的10%）的症状儿童的DNA进行了突变分析。在这一人群中发现了四种新的突变，其中一种似乎是最常见的。所有孩子的父母都是堂兄弟姐妹。P306是P305的年轻同胞，在2日龄时被诊断并开始接受生物素治疗，从未出现症状。
Biotinidase de-ciency (McKusick 253620) is an autosomal recessively inherited disorder of biotin metabolism (Wolf et al 1983). Biotinidase (EC 3.5. 1.12) recycles the vitamin biotin from endogenous and dietary sources (Wolf 1995). Symptomatic children with profound biotinidase de-ciency improve with biotin (Wolf, 1995). Human biotinidase cDNA (BTD, GenBank U03274, AF018630, AF018631) has been isolated and sequenced (Cole et al 1994) and the genomic organization of the gene has been determined (Knight et al 1998). Mutation analysis of DNA from children with profound biotinidase de-ciency from the United States has identi-ed over 40 diUerent mutations that cause biotinidase de-ciency (Norrgard et al 1999; Pomponio et al 1997). We have performed mutation analysis on DNA from 10 symptomatic children with profound biotinidase de-ciency (\10% of mean serum biotinidase activity) from 8 families from Saudi Arabia. Four novel mutations, one of which appears to be the most common, were identi-ed in this population.The clinical information about each child is summarized in Table 1. The parents of all the children are-rst cousins. P306, the younger sib of P305, was diagnosed and started on biotin therapy at 2 days of age, and was never symptomatic.