title: Analysis of the inheritance pattern of a Chinese family with phaeochromocytomas through whole exome sequencing.
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.
authors.affiliation: 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.
authors.forename: Min
authors.initials: M
authors.lastname: Cao
authors.forename: Fukang
authors.initials: F
authors.lastname: Sun
authors.forename: Xin
authors.initials: X
authors.lastname: Huang
authors.forename: Jun
authors.initials: J
authors.lastname: Dai
authors.forename: Bin
authors.initials: B
authors.lastname: Cui
authors.forename: Guang
authors.initials: G
authors.lastname: Ning
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D044466:Asian People; D002681:China; D059472:Exome; D005260:Female; D005854:Germ Cells / Q000378:metabolism; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D010375:Pedigree; D010641:Phenotype; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics*; D014057:Tomography, X-Ray Computed
keywords: CT; CTA; Computed Tomography; Computed Tomography Angiography; FDR; False Discovery Rate; GO; Gene Ontology; Indel; Inheritance pattern; Insertion–Deletion; LOD; Logarithm of Odds; MEN2; MN; Metanephrine; Multiple Endocrine Neoplasia Type 2; NF1; NMN; NPL; NS; Neurofibromatosis Type 1; Non-synonymous; Nonparametric Linkage; Normetanephrine; PCCs; PGLs; Paragangliomas; Phaeochromocytomas; SNP; SNV; SS; Sanger sequencing; Single Nucleotide Polymorphism; Single Nucleotide Variation; Splice Site; TR; Target Region; VHL; Von Hippel–Lindau; Whole exome sequencing