Analysis of the inheritance pattern of a Chinese family with phaeochromocytomas through whole exome sequencing |
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Authors: | Min Cao Fukang Sun Xin Huang Jun Dai Bin Cui Guang Ning |
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Affiliation: | 1. Laboratory of Endocrinology and Metabolism, Institute of Health Sciences, Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS) & Shanghai Jiao Tong University School of Medicine (SJTUSM), 225 South ChongQing Road, Shanghai 200025, PR China;2. Shanghai Clinical Center for Endocrine and Metabolic Diseases, Department of Urology, Ruijin Hospital, Shanghai JiaoTong University School of Medicine, 197 RuiJin Er Lu, Shanghai 200025, PR China |
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Abstract: | Phaeochromocytomas (PCCs) and paragangliomas (PGLs) are rare, catecholamine-producing tumors. Most familial PCC/PGLs have been detected to be autosomal dominantly inherited. However, this study was undertaken in a family with PCCs to determine candidate genes in a dominant or recessive inheritance pattern. After excluding mutations in ten PCC/PGL susceptibility genes by Sanger sequencing, we used whole exome sequencing for screening on the four family members to discover novel candidate genes associated with PCCs. Based on the inexistence of non-synonymous mutations or indels in the ten known genes and the structure of this pedigree, 3 damaging loci with dominant inheritance pattern, and 5 damaging loci with recessive homozygous inheritance pattern and 6 damaging genes with compound heterozygous inheritance pattern were narrowed down to indicate the association with PCCs. According to the Gene Ontology (GO) category analysis on the combined results, cell adhesion showed the most significant enrichment. |
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Keywords: | CT, Computed Tomography CTA, Computed Tomography Angiography FDR, False Discovery Rate GO, Gene Ontology Indel, Insertion&ndash Deletion LOD, Logarithm of Odds MEN2, Multiple Endocrine Neoplasia Type 2 MN, Metanephrine NF1, Neurofibromatosis Type 1 NMN, Normetanephrine NPL, Nonparametric Linkage NS, Non-synonymous PCCs, Phaeochromocytomas PGLs, Paragangliomas SNP, Single Nucleotide Polymorphism SNV, Single Nucleotide Variation SS, Splice Site TR, Target Region VHL, Von Hippel&ndash Lindau |
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