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CFC1 mutations in Chinese children with congenital heart disease. 2011

Binbin Wang, and Jing Wang, and Shiguo Liu, and Xiaoyang Han, and XiaoDong Xie, and You Tao, and Jinting Yan, and Xu Ma

BACKGROUND Congenital heart disease (CHD) is one of the most common human birth defects. Over the last few decades, a variety of CHD-causing gene mutations have been identified. The aim of this study was to identify potential pathological mutations in the Cryptic (CFC1) gene in 500 Chinese children with CHD and to gain insight into the etiology of CHD. METHODS Sequence analysis of CFC1 in 500 non-syndromic CHD patients and 250 healthy controls. RESULTS We identified three novel non-synonymous variants (c. G506T p. Gly169Val; c. G517A p. Gly173Arg; c. G658T p. Leu219Phe). These variants were not observed in 250 controls. All of the non-synonymous variants were located in or very close to the hydrophobic C-terminus. CONCLUSIONS To our knowledge, this is the first study to suggest that CFC1 may be involved in the etiology of non-syndromic CHD in a Chinese population.

UI MeSH Term Description Entries
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D006330 Heart Defects, Congenital Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life. Congenital Heart Disease,Heart Abnormalities,Abnormality, Heart,Congenital Heart Defect,Congenital Heart Defects,Defects, Congenital Heart,Heart Defect, Congenital,Heart, Malformation Of,Congenital Heart Diseases,Defect, Congenital Heart,Disease, Congenital Heart,Heart Abnormality,Heart Disease, Congenital,Malformation Of Heart,Malformation Of Hearts
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000595 Amino Acid Sequence The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION. Protein Structure, Primary,Amino Acid Sequences,Sequence, Amino Acid,Sequences, Amino Acid,Primary Protein Structure,Primary Protein Structures,Protein Structures, Primary,Structure, Primary Protein,Structures, Primary Protein
D044466 Asian People Persons having origins in any of the Asian racial groups of the Far East, Southeast Asia, or the Indian subcontinent including, for example, Cambodia, China, India, Japan, Korea, Malaysia, Pakistan, the Philippine Islands, Thailand, and Vietnam. Note that OMB category ASIAN is available for United States population groups. Race and ethnicity terms, as used in the federal government, are self-identified social construct and may include terms outdated and offensive in MeSH to assist users who are interested in retrieving comprehensive search results for studies such as in longitudinal studies. Asian Continental Ancestry Group,Asian Person,Asiatic Race,Mongoloid Race,Asian Peoples,Asian Persons,Asiatic Races,Mongoloid Races,People, Asian,Person, Asian,Race, Asiatic,Race, Mongoloid
D036341 Intercellular Signaling Peptides and Proteins Regulatory proteins and peptides that are signaling molecules involved in the process of PARACRINE COMMUNICATION. They are generally considered factors that are expressed by one cell and are responded to by receptors on another nearby cell. They are distinguished from HORMONES in that their actions are local rather than distal. Growth Factor,Growth Factors,Paracrine Peptide Factors,Paracrine Protein Factors,Factor, Growth,Factors, Growth,Peptide Factors, Paracrine

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