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首页> 外文期刊>Case Reports in Genetics >Identification ofSLC22A5Gene Mutation in a Family with Carnitine Uptake Defect
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Identification ofSLC22A5Gene Mutation in a Family with Carnitine Uptake Defect

机译：肉碱摄入缺陷家族中SLC22A5基因突变的鉴定

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Primary systemic carnitine deficiency is caused by homozygous or compound heterozygous mutation in theSLC22A5gene on chromosome 5q31. The most common presentations are in infancy and early childhood with either metabolic decompensation or cardiac and myopathic manifestations. We report a case of 9-year-old boy with dysmorphic appearance and hypertrophic cardiomyopathy. Tandem MS spectrometry analysis was compatible with carnitine uptake defect (CUD). His sister had died due to sudden infant death at 19 months. His second 4-year-old sister’s echocardiographic examination revealed hypertrophic cardiomyopathy, also suffering from easy fatigability. Her tandem MS spectrometry analyses resulted in CUD. We sequenced all the exons of theSLC22A5gene encoding the high affinity carnitine transporter OCTN2 in the DNA. And one new mutation (c.1427T>G → p.Leu476Arg) was found in the boy and his sister in homozygous form, leading to the synthesis of an altered protein which causes CUD. The parent’s molecular diagnosis supported the carrier status. In order to explore the genetic background of the patient’s dysmorphic appearance, an array-CGH analysis was performed that revealed nine copy number variations only. Here we report a novelSLC22A5mutation with the novel hallmark of its association with dysmorphologic feature.
机译：原发性系统性肉碱缺乏症是由5q31号染色体上SLC22A5基因的纯合或复合杂合突变引起的。最常见的表现是在婴儿期和儿童早期出现代谢失代偿或心脏和肌病表现。我们报告一例9岁男孩的畸形外观和肥厚型心肌病。串联质谱分析与肉碱摄取缺陷（CUD）兼容。他的姐姐因19个月婴儿突然死亡而死亡。他的第二个4岁姐姐的超声心动图检查显示出肥厚型心肌病，也容易疲劳。她的串联质谱分析结果为CUD。我们对DNA中编码高亲和力肉碱转运蛋白OCTN2的SLC22A5基因的所有外显子进行了测序。在男孩和他的妹妹中发现了一个纯合子形式的新突变（c.1427T> G→p.Leu476Arg），导致合成了引起CUD的蛋白质。父母的分子诊断支持携带者的身份。为了探索患者畸形外观的遗传背景，进行了阵列CGH分析，结果仅显示了9个拷贝数变异。在这里，我们报告了一个新颖的SLC22A5突变，其与形态特征相关的新颖特征。

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