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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta
European Journal of Human Genetics, Volume 22, No. 1, Year 2014
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Description
The conventional approach to identifying the defective gene in a family with an inherited disease is to find the disease locus through family studies. However, the rapid development and decreasing cost of next generation sequencing facilitates a more direct approach. Here, we report the identification of a frameshift mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta (AI). Whole-exome sequencing of three affected family members and subsequent filtering of shared variants, without prior genetic linkage, sufficed to identify the pathogenic variant. Simultaneous analysis of multiple family members confirms segregation, enhancing the power to filter the genetic variation found and leading to rapid identification of the pathogenic variant. LAMB3 encodes a subunit of Laminin-5, one of a family of basement membrane proteins with essential functions in cell growth, movement and adhesion. Homozygous LAMB3 mutations cause junctional epidermolysis bullosa (JEB) and enamel defects are seen in JEB cases. However, to our knowledge, this is the first report of dominant AI due to a LAMB3 mutation in the absence of JEB. © 2014 Macmillan Publishers Limited.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3865405/bin/ejhg201376x1.doc
Authors & Co-Authors
Poulter, James A.
United Kingdom, Leeds
University of Leeds, School of Medicine
El-Sayed, W. Shaaban
United Kingdom, Leeds
University of Leeds, School of Medicine
Egypt, Ismailia
Suez Canal University
United Kingdom, Leeds
University of Leeds
Shore, Roger C.
United Kingdom, Leeds
University of Leeds
Kirkham, Jennifer
United Kingdom, Leeds
University of Leeds
Inglehearn, Chris F.
United Kingdom, Leeds
University of Leeds, School of Medicine
Mighell, Alan J.
United Kingdom, Leeds
University of Leeds, School of Medicine
United Kingdom, Leeds
University of Leeds
Statistics
Citations: 64
Authors: 6
Affiliations: 3
Identifiers
Doi:
10.1038/ejhg.2013.76
ISSN:
10184813
e-ISSN:
14765438
Research Areas
Cancer
Genetics And Genomics