[家族性低β脂蛋白血症：载脂蛋白B基因新突变的临床特征]
[Familial hypobetalipoproteinemia: clinical characterization of a new mutation in the APOB gene].
作者信息
Iglesias Pedro, Díez Juan J, Tarugi Patrizia
机构信息
Servicio de Endocrinología, Hospital General, Segovia, España.
出版信息
Med Clin (Barc). 2009 Jun 13;133(2):57-60. doi: 10.1016/j.medcli.2008.10.063. Epub 2009 May 14.
BACKGROUND AND OBJECTIVE
Familial hypobetalipoproteinemia (FHB) is usually due to mutations in the APOB gene. Almost 60 different mutations have been reported. We report a Spanish family with FHB phenotype and a new mutation.
PATIENT AND METHODS
We performed an analytical, localizing and molecular study of the APOB gene in the proband and in two relatives phenotypically affected.
RESULTS
The proband was a 32-year-old woman with moderate to severe mental retardation, morbid obesity, hypocholesterolemia, hypertransaminasemia, and hepatic steatosis. The familial phenotypic study was positive in other 6 relatives. The genetic study confirmed the presence of a novel mutation (apoB-69.27) in the APOB gene. The proband, her mother and one maternal great aunt were heterozygote for that mutation.
CONCLUSIONS
FHB has a variable phenotypic expression that can range from oligosymptomatic disease to severe neurological damage.
背景与目的
家族性低β脂蛋白血症（FHB）通常由载脂蛋白B（APOB）基因突变所致。已报道了近60种不同的突变。我们报告了一个具有FHB表型的西班牙家族及一种新的突变。
患者与方法
我们对先证者及另外两名表型受累的亲属进行了APOB基因的分析、定位及分子研究。
结果
先证者为一名32岁女性，有中度至重度智力发育迟缓、病态肥胖、低胆固醇血症、高转氨酶血症及肝脂肪变性。家族表型研究在其他6名亲属中呈阳性。基因研究证实APOB基因存在一种新的突变（apoB - 69.27）。先证者、其母亲及一位外祖母的姑姑为该突变的杂合子。
结论
FHB具有可变的表型表达，范围可从症状轻微的疾病到严重的神经损伤。
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