Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-01

AUTHORS

Kristen Lipscomb Sund, Sarah L. Zimmerman, Cameron Thomas, Anna L. Mitchell, Carlos E. Prada, Lauren Grote, Liming Bao, Lisa J. Martin, Teresa A. Smolarek

ABSTRACT

PURPOSE: The purpose of this study was to document the ability of single-nucleotide polymorphism microarray to identify copy-neutral regions of homozygosity, demonstrate clinical utility of regions of homozygosity, and discuss ethical/legal implications when regions of homozygosity are associated with a parental blood relationship. METHODS: Study data were compiled from consecutive samples sent to our clinical laboratory over a 3-year period. A cytogenetics database identified patients with at least two regions of homozygosity >10 Mb on two separate chromosomes. A chart review was conducted on patients who met the criteria. RESULTS: Of 3,217 single-nucleotide polymorphism microarrays, 59 (1.8%) patients met inclusion criteria. The percentage of homozygosity ranged from 0.9 to 30.1%, indicating parental relationships from distant to first-degree relatives. First-degree kinship was suspected in the parents of at least 11 patients with regions of homozygosity covering >21.3% of their autosome. In four patients from two families, homozygosity mapping discovered a candidate gene that was sequenced to identify a clinically significant mutation. CONCLUSION: This study demonstrates clinical utility in the identification of regions of homozygosity, as these regions may aid in diagnosis of the patient. This study establishes the need for careful reporting, thorough pretest counseling, and careful electronic documentation, as microarray has the capability of detecting previously unknown/unreported relationships. More... »

PAGES

70

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/gim.2012.94

DOI

http://dx.doi.org/10.1038/gim.2012.94

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1045234953

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22858719


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