Familial homozygous hypercholesterolemia due to the c2271delT mutation in the LDL receptor gene, detected exclusively in mexicans

被引：0

作者：

Martinez, Lizbeth ^{[2
]}

Ordonez Sanchez, Maria Luisa ^{[3
]}

Letona, Rosario ^{[1
]}

Olvera Sumano, Veronica ^{[2
]}

Miguel Guerra, Mariano ^{[2
]}

Teresa Tusie-Luna, Maria ^{[3
]}

Alberto Aguilar-Salinas, Carlos ^{[1
]}

机构：

[1] Inst Nacl Ciencias Med & Nutr Salvador Zubiran, Dept Endocrinol & Metab, Mexico City 14000, DF, Mexico

[2] Hosp Reg Alta Especialidad Oaxaca, Mexico City, DF, Mexico

[3] Univ Nacl Autonoma Mexico, Inst Invest Biomed, Inst Nacl Ciencias Med & Nutr, Unidad Biol Mol & Med Genom, Mexico City 04510, DF, Mexico

来源：

GACETA MEDICA DE MEXICO | 2011年 / 147卷 / 05期

关键词：

Familial hypercholesterolemia; Mexico; LDL receptor; Homozygous familial hypercholesterolemia; Genetically isolated populations; DISEASE;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We present the case of an 18-years old women with homozygous familial hypercholesterolemia in which a LDL receptor mutation (c2271delT) was found. This mutation has been informed only in Mexicans. The patient was born in Oaxaca, Mexico. She has atypical location of tendinous and tuberous xanthomata, coronary atherosclerosis and multiple valve involvement. The response to ezetimibe/high dose statin therapy was poor This case is an example of the occurrence of homozygous forms of familial hypercholesterolemia in genetically isolated populations of Mexico.

引用

页码：394 / 398

页数：5

共 34 条

[31] Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred
D. Takada
M. Emi
Y. Ezura
Y. Nobe
K. Kawamura
Y. Iino
Y. Katayama
Y. Xin
L. L. Wu
S. Larringa-Shum
S. H. Stephenson
S. C. Hunt
P. N. Hopkins
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[32] Familial hypercholesterolemia.: Acceptor splice site (G → C) mutation in intron 7 of the LDL-R gene:: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8.: LDL-RHonduras-1 [LDL-R1061(-1) G→C]
Yu, L
Heere-Ress, E
Boucher, B
Defesche, JC
Kastelein, J
Lavoie, MA
Genest, J
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[33] Identification of Novel Missense Mutation G571E, Novel Silent Mutation H229H, Nonsense Mutation C74X, and Four Single Nucleotide Polymorphisms in the Low-Density Lipoprotein Receptor Gene in Patients with Familial Hypercholesterolemia from St. Petersburg
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V. I. Golubkov
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B. M. Lipovetskii
V. S. Gaitskhoki
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[34] Identification of novel missense mutation G571E, novel silent mutation H229H, nonsense mutation C74X, and four single nucleotide polymorphisms in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia from St. Petersburg
Zakharova, FM
Golubkov, VI
Mandelshtam, MJ
Lipovetskii, BM
Gaitskhoki, VS
RUSSIAN JOURNAL OF BIOORGANIC CHEMISTRY, 2001, 27 (05) : 349 - 351

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