1. Whole exome sequencing in a rare disease: A patient with anomalous left coronary artery from the pulmonary artery (Bland-White-Garland syndrome)

Whole exome sequencing in a rare disease: A patient with anomalous left coronary artery from the pulmonary artery (Bland-White-Garland syndrome)

Prof. Nezih Hekim, PhD 1 Prof. Talantbek Batyraliev, MD 2 Daniel Trujillano, PhD 3 Prof. Wei Wang, PhD 4 Collet Dandara, PhD 5 Prof. Zarema Karben, MD 6 Eyüp Ilker Saygılı, PhD 6 Prof. Zafer Cetin, PhD 6 Deniz Mihcioglu 6 Prof. Serdar Türkmen, MD 6 Mehmet Ali İkidağ, PhD 6 Mehmet Ali Cüce 6 Prof. Arndt Rolfs, MD 3
1 Kemerburgaz University of Istanbul 2 Kyrgyzstan Ministry of Health Bishkek 3 CENTOGENE AG 4 Edith Cowan University Perth 5 University of Cape Town 6 SANKO University Gaziantep
May 01, 2016

OMICS - A Journal of Integrative Biology, Volume 20, Number 5, 2016
doi:10.1089/omi.2016.0046

Anomalous origin of left coronary artery from pulmonary artery (ALCAPA), also known as the Bland-White-Garland syndrome, is a rare congenital abnormality, with an incidence of 1 in 300,000 live births. ALCAPA was reported in Brooks(1885) but there are vast knowledge gaps on pedigree, epidemiology, and genetic/genomic studies of ALCAPA. Our search of the published literature on PUBMED using the keywords ALCAPA and ‘‘mutation’’ or ‘‘polymorphism’’ identified only one hit, dealing with a single candidate gene analysis (Sawaya et al., 2011). Genomics correlates of this rare disease are particularly missing and much needed for new insights into future novel diagnostics and potential therapeutic interventions. ALCAPA is associated with myocardial cell death, heart failure, and often mortality when it is not treated.Herein we report the results of the first whole exome sequencing (WES) of an ALCAPA patient who has been followed for 8 years; his clinical course was described previously elsewhere (Türkmen et al., 2014)