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Identification of LDLR mutations in two Chinese pedigrees with familial hypercholesterolemia
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Ru-en Yao
Veröffentlicht/Copyright:
13. Juli 2012
Abstract
Familial hypercholesterolemia (FH) is an autosomal dominant, inherited disease (OMIM 143890) characterized by elevated serum cholesterol bound to low-density lipoprotein (LDL). It is mainly caused by mutations of the low-density lipoprotein receptor gene (LDLR). In this study, we investigated two Chinese pedigrees with FH. The probands were a 9-year-old boy and a 1-year-old boy, who had high LDL-C levels. The proband in family A showed skin xanthoma. We sequenced the promoter and all exons and exon-intron boundaries of the LDLR gene to detect potential mutations. Compound heterozygote of c.1747C>T and c.2054C>T was detected in the proband of family A, and a heterozygous indel mutation c.551_553 delGTAinsTT was discovered in the second family. The c.1747C>T and c.2054C>T mutations, which have been reported previously, result in His583Tyr and Pro685Leu substitutions, respectively. The novel c.551_553 delGTAinsTT indel mutation causes a frameshift, which results in a p.Cys184Phe fs21X mutation in the corresponding protein.
Received: 2012-1-31
Accepted: 2012-6-3
Published Online: 2012-07-13
Published in Print: 2012-08-01
©2012 by Walter de Gruyter Berlin Boston
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Schlagwörter für diesen Artikel
familial hypercholesterolemia;
gene mutation;
low-density lipoprotein receptor
Artikel in diesem Heft
- Masthead
- Masthead
- Editorial
- Obesity, adolescence, and sleep deprivation
- Reviews
- 18F-DOPA positron emission tomography/computed tomography application in congenital hyperinsulinism
- Pathogenesis of propylthiouracil-related hepatotoxicity in children: present concepts
- Images in pediatric endocrinology
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- Original articles
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- Association of vitamin D receptor gene Cdx2 polymorphism with bone markers in Turner syndrome patients
- Serum 25-hydroxyvitamin D levels do not correlate with asthma severity in a case-controlled study of children and adolescents
- Assessment of the 21-hydroxylase deficiency and the adrenal functions in young females with Turner syndrome
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- The second report from Turkey: waist percentiles for 6–11-year-old children in Elazig Province, Eastern Anatolia
- Association analysis between endothelial function related factors and coronary artery stenosis degree in coronary heart disease patients with type 2 diabetes mellitus
- Adiponectin and arterial stiffness in youth with type 1 diabetes: the SEARCH for Diabetes in Youth Study
- Thyroid autoimmunity in 72 children with type 1 diabetes mellitus: relationship with pancreatic autoimmunity and child growth
- Nesfatin-1 in newborns: relationship with endocrine and metabolic and anthropometric measures
- How much is enough? Evaluation of adrenal function in children who undergo growth hormone stimulation test
- A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism
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- Patient reports
- Central precocious puberty after interpersonal transfer of testosterone gel: just a coincidence?
- Elevated α-fetoprotein levels in Van Wyk-Grumbach syndrome: a case report and review of literature
- Identification of LDLR mutations in two Chinese pedigrees with familial hypercholesterolemia
- Foster care and type 1 diabetes in the Bronx: a case series
- Primary hyperparathyroidism: fifth parathyroid intrathymic adenoma in a young patient
- Sturge-Weber syndrome: presentation with partial hypopituitarism
- Self-limiting hematuria following growth hormone provocative testing with arginine hydrochloride
- First case report of short-chain acyl-CoA dehydrogenase deficiency in China
- Ganglioneuroblastoma in a young child with Turner syndrome
- MODY2 caused by a novel mutation of GCK gene
- Variability in the age at diagnosis of diabetes in two unrelated patients with a homozygous glucokinase gene mutation
- Letter to the editor
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- Meetings
- Meetings Calendar
