Child ; Genetic Diseases, Inborn ; genetics ; Humans

Computational Biology ; Genetic Diseases, Inborn ; Humans ; Mouth Diseases ; genetics

Genetic Diseases, Inborn ; diagnosis ; Humans ; Mouth Diseases ; diagnosis ; genetics

SAL-like 4 (SALL4) locating at chromosome 20q13.13-13.2 encodes a newly identified transcription factor containing 8 zinc finger motif. Recent studies have revealed the important role of SALL4 gene in the regulation of early embryonic development, organogenesis, and proliferation and pluripotency of embryonic stem cells. The heterozygous mutations of SALL4 in different loci, causing nonsense mutation or frameshift mutation, and resulting in genesis of premature terminal codon, are correlated with autosomal dominant hereditary diseases such as Okihiro syndrome, acro-renal-ocular syndrome and IVIC syndrome. The level of SALL4 expression is increased in germ cell tumors, hepatoid gastric carcinoma, acute myeloid leukemia, B-precursor cell leukemia/lymphoma and myelodysplastic syndrome. This review focuses on the structure and function of SALL4 gene as well as its relevance to related diseases.
Genetic Diseases, Inborn ; genetics ; Humans ; Mutation ; Transcription Factors ; genetics

The recent achievements of the Human Genome Project make it increasingly feasible to determine the genetic basis of human diseases, especially complex traits. Genomics will provide powerful means to discover hereditary elements that interact with environmental factors leading to diseases. However, the expected transformation toward genomics-based medicine will occur over decades, which requires the joint efforts of many scientists and physicians. Such transformation provides both opportunities and challenges to everyone involved in this field.
Genetic Diseases, Inborn ; genetics ; Genetic Predisposition to Disease ; genetics ; Genetic Testing ; Human Genome Project ; Humans

The development of new generation sequencing technologies has brought new opportunities for the study of diseases. Exome sequencing has shown to be an effective, rapid, high performance technique that has already been used in research of inherited diseases such as monogenic disorders. It has already been approved by scientists in the field of monogenic disorder study, and will become widely used. This approach will accelerate discovery of the causative genes of Mendelian disorders. This article reviews some recent applications of exome sequencing in the study of gene-related diseases.
Exome ; genetics ; Genetic Association Studies ; Genetic Diseases, Inborn ; genetics ; Humans ; Sequence Analysis, DNA

Approaches to the study of the genetic basis of common complex diseases and their clinical applications are considered. Monogenic Mendelian inheritance in such conditions is infrequent but its elucidation may help to detect pathogenic mechanisms in the more common variety of complex diseases. Involvement by multiple genes in complex diseases usually occurs but the isolation and identification of specific genes so far has been exceptional. The role of common polymorphisms as indicators of disease risk in various studies is discussed.
Genetic Diseases, Inborn ; genetics ; Genetic Predisposition to Disease ; Genetic Techniques ; Humans ; Inheritance Patterns ; Linkage Disequilibrium ; Models, Genetic ; Polymorphism, Genetic ; Risk Factors

Epilepsy, Tonic-Clonic ; genetics ; physiopathology ; Genetic Diseases, Inborn ; genetics ; physiopathology ; Humans ; Syndrome

Communicable Diseases ; genetics ; Genetic Diseases, Inborn ; genetics ; Genetic Testing ; Genotype ; Genotyping Techniques ; Humans ; Molecular Diagnostic Techniques ; Precision Medicine ; methods ; trends

OBJECTIVE: To explore the genetic basis for a child affected with cerebral creatine deficiency syndrome 1 (CCDS1). METHODS: High-throughput sequencing was carried out to screen pathogenic variant associated with the clinical phenotype of the proband. The candidate variant was verified by Sanger sequencing. RESULTS: High-throughput sequencing revealed that the proband has carried heterozygous c.327delG variant of the SLC6A8 gene, which was verified by Sanger sequencing.Neither parent was found to carry the same variant. CONCLUSION The de novo heterozygous c.327delG variant of the SLC6A8 gene probably underlay the CCDS1 in this child.
Brain Diseases, Metabolic, Inborn/genetics* ; Creatine ; Genetic Testing ; Heterozygote ; Humans ; Mental Retardation, X-Linked ; Mutation