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首页> 外文期刊>Molecular genetics and metabolism >Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency.
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Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency.

机译：肉碱膜转运蛋白缺乏症：在第一个记录的原发性肉碱缺乏症病例中，长期随访和OCTN2突变。

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Three older patients were diagnosed with systemic carnitine deficiency in childhood nearly a generation ago and have together been treated for more than 50 patient years. Treatment improved tissue carnitine stores (proven in two) and eliminated most of the signs and symptoms of carnitine deficiency. All three have continued to respond to carnitine therapy and remain well except for the irreversible sequelae of the pretreatment illnesses. We demonstrate here that transformed lymphocytes from the first documented case of plasma membrane carnitine transporter deficiency fail to take up carnitine from the medium. The analysis of the cDNA of this patient and his parents revealed a homozygous frameshift mutation, 1027delT in exon 4. The resulting polypeptide terminates after amino acid 295. His parents are heterozygous for this mutation. The deletion resulted in predominately abnormal mRNA splicing with either a 13 or 19bp insertion between the junction of exons 3 and 4. The 13/19bp insertions were found in both parents, predominantly in cis with the deletion, and rarely seen with normal alleles from either parents or controls.
机译：在将近一代人的童年时期，三名老年患者被诊断出患有系统性肉碱缺乏症，并且已经接受了超过50个患者年的治疗。治疗改善了组织肉碱的储存（两次证实），并消除了肉碱缺乏的大多数体征和症状。除治疗前疾病的不可逆后遗症外，三者均继续对肉碱疗法有反应，并保持良好状态。我们在这里证明，从质膜肉碱转运蛋白缺乏症的第一个记录的案例中转化的淋巴细胞不能从培养基中吸收肉碱。对该患者及其父母的cDNA进行分析后发现，存在一个纯合的移码突变，即外显子4中的1027delT。所得多肽在氨基酸295后终止。缺失导致显着异常的mRNA剪接，在外显子3和4的交界之间插入了13或19bp的插入。在父母双方中都发现了13 / 19bp的插入，主要在缺失的顺式中，并且很少见到来自任一者的正常等位基因父母或控制者。

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