Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene
Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene
复制标题
DOI：
10.1016/j.metabol.2009.07.042
复制
发表时间：
2010-04-01
影响因子：
9.8
通讯作者：
Averna, Maurizio R.
中科院分区：
文献类型：
--
作者：
Cefalu, Angelo B.;Calvo, Pier L.;Averna, Maurizio R.
乳糜微粒潴留病是一种隐性遗传疾病，其特征是脂肪吸收不良和脂肪沉积，并与婴儿期发育不良有关。我们描述了一个亲属携带突变的Sara 2基因引起乳糜微粒滞留表型。先证者是一个5个月大的婴儿，出生于来自摩洛哥的近亲，显然健康的父母，未能茁壮成长。粪便中有大量脂肪，脂溶性维生素吸收不良。肠活检显示弥漫性肠上皮细胞空泡化，伴有大的胞质脂滴。假设乳糜微粒滞留病或安德森病，并通过直接测序分析Sara 2基因。先证者的Sara 2基因分析鉴定了外显子3的2个核苷酸纯合缺失，导致提前终止密码子（c.75-76 del TG-L28 fsX 34）。父亲是杂合子相同的突变，而先证者的母亲是纯合子，这表明一个可变的表型表达的分子缺陷。对于同一家系中同一分子缺陷表型变异的原因还需进一步研究。(C)2010年爱思唯尔公司All rights reserved.
Chylomicron retention disease is a recessive inherited disorder characterized by fat malabsorption and steatorrhea and is associated with failure to thrive in infancy. We describe a kindred carrying a mutation of Sara2 gene causing a chylomicron retention phenotype. The proband was a 5-month-old baby, born of consanguineous, apparently healthy parents from Morocco, with failure to thrive. There was a large quantity of fats in feces and malabsorption of fat-soluble vitamins. Intestinal biopsies showed a diffused enterocyte vacuolization with large cytosolic lipid droplets. Chylomicron retention disease or Anderson disease was hypothesized, and the Sara2 gene was analyzed by direct sequencing. Analysis of the Sara2 gene in the proband identified a 2-nucleotide homozygous deletion in exon 3 leading to a premature stop codon (c.75-76 del TG-L28fsX34). The father was heterozygous for the same mutation, whereas the proband's mother was homozygous, suggesting a variable phenotypic expression of the molecular defect. More studies are needed to understand the reasons of the phenotypic variability of the same molecular defect in the same family. (C) 2010 Elsevier Inc. All rights reserved.