BMC Medical Genetics

Featured article: Rare CNV screening in ulcerative colitis

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Genome-wide rare copy number variants contributing to risk of ulcerative colitis are identified from this multi-step case control analysis. Three rare copy number variants were reproduced in independent follow-up sample sets from twenty four in the initial panel.

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This case reports a novel heterozygous missense mutation in the HNF-1α gene in a family with members affected by maturity onset diabetes of the young (MODY). The family also showed increased susceptibility to type 2 diabetes. The authors conclude that the presence of type 2 diabetes should not detract from the possibility of MODY in patients with family history.

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Aims and scope

BMC Medical Genetics is an open access journal publishing original peer-reviewed research articles in the effects of genetic variation in individuals, families and among populations in relation to human health and disease.

Editor

Matteo Pasini, BioMed Central, UK

Section Editors

Dan Rujescu, Universitätsklinikum Halle, Germany
Danish Saleheen, University of Pennsylvania, USA

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