Hereditary opalescent dentin is a rare autosomal dominant inherited disease of dentin development. A case of hereditary opalescent dentin was reported, and the pathogenesis, family tree and restoration methods were reviewed.
Dentinogenesis Imperfecta ; Humans ; Pedigree

Humans ; Pedigree ; Rosacea ; pathology

Essential Tremor ; Humans ; Pedigree

Most common diseases are complex genetic traits. Identifying the genes that underlie the variation in the diseases has been challenging. Two major approaches have been used to map genetic variants that influence disease risk: linkage analysis and association study. Linkage analysis tests for the co-segregation of a marker and disease phenotype within a pedigree, whereas association study tests for differences in marker allele frequencies between patients and a control population. Linkage analysis is applied without any prior knowledge of the biological basis of the disease. In association study, genes with a known function with the potential to influence the disease phenotype are investigated for a direct role in disease. No single method is sufficient. A multi-strategy approach to the mapping of complex diseases is required. We review the different types of genetic studies to find genes for complex genetic traits.
Gene Frequency ; Humans ; Pedigree ; Phenotype

Humans ; Pedigree ; Tuberous Sclerosis ; pathology

Objective: This study described the clinical profile of a four-generation Cebuano family with juvenile-onset open-angle glaucoma (JOAG). Methods: Thisis a case series conducted in the out-patient department of Cebu Velez General Hospital. Thirtyeight (38) members in a four-generation family from the northern part of Cebu province were investigated. General medical and ophthalmologic histories were taken. Complete ophthalmologic examination was done. Results: Forty-two (42%) percent of participants examined had increased intraocular pressures (IOP); 15 were diagnosed with JOAG, one had ocular hypertension. There were more females than males affected. Mean age when symptoms were first noted was 14.56 ±6.63 years and mean age at diagnosis was 16.3 ±7.84 years. The most common initial symptom was rainbow or halos around lights (87.5%). Mean refraction was -3.09 ±2.54 diopters for both eyes. Mean IOP on examination was 24.56 ± 20.17 mmHg. Gonioscopy showed open angles with flat iris plane. All affected participants underwent medical treatment and 69% needed surgical interventions. Conclusion This family demonstrated the typical JOAG phenotype consisting of early age of onset, strong family history with an autosomal dominant pattern of inheritance, myopia, open angles, and increased IOP refractory to medical treatment.
Glaucoma ; Ocular Hypertension ; Phenotype ; Pedigree

IgA nephropathy is the most common form of primary glomerulonephritis and chronic glomerular disease worldwide including Korea. Familial gathering of IgA nephropathy suggests that genetic factors contribute to the development of this disease. Although there have been many reports on familial IgA nephropathy with genetic analysis and their pedigrees, there has been few reports in Korea. We reported a partial familial IgA nephropathy pedigree with a brief review of the literatures.
Glomerulonephritis ; Glomerulonephritis, IGA ; Immunoglobulin A ; Korea ; Pedigree

Humans ; Male ; Middle Aged ; Pedigree ; Porokeratosis ; genetics

OBJECTIVETo analyze the phenotype and genotype of a family with inherited dysfibrinogenemia.

METHODSAssays of coagulation, including activated partial thromboplastin time (APTT), prothrombin time (PT) and thrombin time (TT), were carried out with Stago Compact in the proband and his family members. The activity and antigen of fibrinogen in plasma were determined by Clauss and immunoturbidimetry, respectively. Fibrinogen and its constituent were analyzed by Western blot with nonreducing 4%-20% SDS-polyacrylamide gel electrophoresis (PAGE). All exons and exon-intron boundaries of fibringen genes FGA, FGB and FGG were analyzed by PCR and then direct sequencing.

RESULTSThe proband had normal APTT and PT, but prolonged TT. The activity of fibrinogen in plasma was decreased while its antigen level was normal. These abnormalities were also found in his mother and a sister. Genetic analysis revealed heterozygous G1233A in the exon 2 of FGA originating from his mother, which resulted in Arg16His missense mutation.

CONCLUSIONInherited dysfibrinogenemia was caused by Arg16His mutation in exon 2 of FGA, and this is the first case reported in a Chinese family.

Adult ; Humans ; Male ; Pedigree ; Polydactyly ; genetics