Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (<ce:italic>MTP</ce:italic>) gene in a young Tunisian patient

Hager Barakizou; Souha Gannouni; Khalil Messaoui; Mathilde Difilippo; Agnès Sassolas; Fethi Bayoudh

首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient

【24h】

Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient

机译：Aβ脂蛋白血症：突尼斯一名年轻患者的微粒体甘油三酸酯转移蛋白（ MTP ）基因的新突变

获取原文

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

Abetalipoproteinemia (ABL), or Bassen–Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia, retinitis pigmentosa, progressive neuropathy and acanthocytosis. We report the case of a Tunisian male child born from consanguineous marriage. He presented at the age of 4 months with failure to thrive, greasy stool and vomiting. His clinical phenotype and serum lipid profile suggested the diagnosis of ABL. The MTP gene analysis revealed a novel homozygous mutation [c.2313-2314delinsAA (p.771Tyrx)]. The parents were heterozygous for the same mutation.

机译：Abeta脂蛋白血症（ABL）或Bassen–Kornzweig综合征是一种罕见的常染色体隐性脂蛋白代谢性隐性疾病，其特征是脂肪吸收不良，低胆固醇血症，色素性视网膜炎，进行性神经病变和吞噬作用。我们报告了一个由近亲结婚而出生的突尼斯男孩的案例。他在4个月大时出现了with壮，粪便油腻和呕吐失败的症状。他的临床表型和血脂水平提示了ABL的诊断。 MTP基因分析揭示了一个新的纯合突变[c.2313-2314delinsAA（p.771Tyr> x）]。父母对于同一突变是杂合的。

著录项

来源
《Egyptian Journal of Medical Human Genetics》 |2016年第3期|共4页
作者
Hager Barakizou; Souha Gannouni; Khalil Messaoui; Mathilde Difilippo; Agnès Sassolas; Fethi Bayoudh;
展开▼
作者单位

展开▼
收录信息
原文格式 PDF
正文语种
中图分类遗传学;
关键词

相似文献

外文文献
中文文献
专利

1. Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia [J] . AminoffA., GunnarE., BarbaroM., Clinical Genetics: An International Journal of Genetics in Medicine . 2012,第2期

机译：两名患者abeta脂蛋白血症的微粒体甘油三酸酯转移蛋白的新突变，包括母亲单亲二体性
2. Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia [J] . AminoffA., GunnarE., BarbaroM., Clinical Genetics: An International Journal of Genetics in Medicine . 2012,第2期

机译：微粒体甘油三酯转移蛋白的新型突变，包括两名患者的孕产妇1患者患者患者血症
3. Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. [J] . Ohashi K, Ishibashi S, Osuga J, Journal of Lipid Research . 2000,第8期

机译：微粒体甘油三酸酯转移蛋白基因中的新突变导致abetalipoproteinemia。
4. ISOTOPIC LABELLING OF MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN (MTP) INHIBITOR BMS-201038 [C] . M. D. Ogan, M. Lago, J. K. Rinehart International Symposium on the Synthesis and Applications of Isotopes and Isotopically Labelled Compounds . 2004

机译：本微粒体甘油三酯转移蛋白（MTP）抑制剂BMS-201038的同位素标记
5. Transcriptional repression of the microsomal triglyceride transfer protein gene in L35 hepatoma cells [D] . Kang, Sohye 2004

机译：L35肝癌细胞中微粒体甘油三酸酯转移蛋白基因的转录抑制
6. Mutations of the Microsomal Triglyceride-Transfer–Protein Gene in Abetalipoproteinemia [O] . Teresa M. E. Narcisi, Carol C. Shoulders, S. Ann Chester, 1995

机译：Abeta脂蛋白血症的微粒体甘油三酸酯转移蛋白基因的突变
7. Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient [O] . Hager Barakizou, Souha Gannouni, Khalil Messaoui, 2016

机译：abetalipoproteinemia：一名突尼斯年轻患者微粒体甘油三酯转运蛋白（mTp）基因的新突变

Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient

摘要

著录项

相似文献

相关主题

期刊订阅