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

Essential Tremor ; Humans ; Pedigree

Humans ; Pedigree ; Rosacea ; pathology

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

Dyschromatosis symmetrica hereditaria (DSH) is characterized by a symmetrical distribution of hyperpigmented and hypopigmented macules on the extremities, especially over the dorsa of the hands and feet. The pattern of inheritance is believed to be autosomal dominant, but many sporadic cases have been reported. We report one family of DSH, which showed a typical autosomal dominant pattern of inheritance by pedigree analysis.
Extremities ; Foot ; Hand ; Humans ; Pedigree ; Wills

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

Female ; Humans ; Male ; Pedigree ; Polydactyly ; genetics ; pathology

OBJECTIVETo elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris (IV).

METHODSLinkage analysis was performed by using STR markers in chromosome 1, and mutation detection was used to screen for FLG gene mutation.

RESULTSA maximum two-point Lod score of 3.46 (theta=0) was obtained at D1S2696. Haplotype analysis placed the critical region in a 15-CM interval defined by D1S2726 and D1S305, but no mutation of FLG was found in our IV patients.

CONCLUSIONThe pathologic gene of the IV family locates near D1S2696, and the FLG gene may not ruled out from the pathologic genes.