Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots

Solcà, C; Stanga, Z; Pandit, B; Diem, P; Greeve, J; Patel, SB (2005). Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots. Clinical genetics, 68(2), pp. 174-8. Oxford: Wiley-Blackwell 10.1111/j.1399-0004.2005.00472.x

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Sitosterolaemia is a rare autosomal recessive disease characterized by increased intestinal absorption of plant sterols, decreased hepatic excretion into bile and elevated concentrations in plasma phytosterols. Homozygous or compound heterozygous loss of function mutations in either of the ATP-binding cassette (ABC) proteins ABCG5 and ABCG8 explain the increased absorption of plant sterols. Here we report a Swiss index patient with sitosterolaemia, who presented with the classical symptoms of xanthomas, but also had mitral and aortic valvular heart disease. Her management over the last 20 years included a novel therapeutic approach of high-dose cholesterol feeding that was semi-effective. Mutational and extended haplotype analyses showed that our patient shared this haplotype with that of the Amish-Mennonite sitosterolaemia patients, indicating they are related ancestrally.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Endocrinology, Diabetology and Clinical Nutrition

UniBE Contributor:

Stanga-Nodari, Zeno and Diem, Peter

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0009-9163

ISBN:

15996216

Publisher:

Wiley-Blackwell

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:56

Last Modified:

01 Oct 2020 10:49

Publisher DOI:

10.1111/j.1399-0004.2005.00472.x

PubMed ID:

15996216

Web of Science ID:

000230290600014

URI:

https://boris.unibe.ch/id/eprint/23849 (FactScience: 44835)

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