Age-related macular degeneration (AMD) is the leading cause of blindness in industrialized countries. It is a genetically heterogeneous disorder. With the development of molecular biology and molecular genetics, multiple potentially causative genes have been identified. Current studies of susceptibility genes and genetic epidemiology of AMD are reviewed.
Blindness ; epidemiology ; genetics ; Chromosomes, Human ; genetics ; Genetic Predisposition to Disease ; Humans ; Macular Degeneration ; epidemiology ; genetics ; Molecular Epidemiology

OBJECTIVE: To explore the genetic etiology of a child with microcephaly-cortical blind syndrome. METHODS: Clinical data of the child was collected. The child and her parents were subjected to whole exome sequencing (WES). Candidate variants were validated by Sanger sequencing. RESULTS: WES revealed that the child has harbored compound heterozygous variants c.1051C>T and c.609delA of the DIAPH1 gene. CONCLUSION The compound heterozygous variation c.1051C>T (p.R351X) and c.609delA (p.E203Efs*19) of the DIAPH1 gene probably underlay the microcephaly-cortical blindness syndrome in this child.
Blindness/genetics* ; Child ; Female ; Formins/genetics* ; Genetic Testing ; Humans ; Microcephaly/genetics* ; Mutation ; Pedigree ; Exome Sequencing

OBJECTIVETo detect gene mutations associated with autosomal dominant congenital stationary night blindness(ADCSNB) in a large Chinese family.

METHODSGenomic DNAs were extracted from peripheral blood samples of 16 affected and 14 unaffected family members. According to 5 missense mutations in 3 genes reported previously, 4 pairs of primers were designed and corresponding exons containing the five mutation sites were amplified by polymerase chain reaction. Amplified products were purified and sequenced by MegaBACE1000 capillary array electrophoresis DNA sequencer. Full field electroretinogram (ERG, ISCEV) of patients was recorded and analyzed by Roland Consult System.

RESULTSDark-adapted ERG showed a-wave was normal, but b-wave of the patients was markedly decreased. None of the five missense mutations were detected in 16 affected and 14 unaffected family members.

CONCLUSIONThe molecular pathogenesis of ADCSNB in this family does not involve point mutations or deletions of these five sites, which indicates the heterogeneity of ADCSNB.

Adult ; Base Sequence ; DNA Mutational Analysis ; Female ; Humans ; Male ; Molecular Sequence Data ; Night Blindness ; congenital ; genetics ; Pedigree ; Point Mutation

OBJECTIVE: To detect potential variants in a family affected with Usher syndrome type I, and analyze its genotype-phenotype correlation. METHODS: Clinical data of the family was collected. Potential variants in the proband were detected by high-throughput sequencing. Suspected variants were verified by Sanger sequencing. RESULTS: The proband developed night blindness at 10 year old, in addition with bilateral cataract and retinal degeneration. Hearing loss occurred along with increase of age. High-throughput sequencing and Sanger sequencing revealed that she has carried compound heterozygous variants of the MYO7A gene, namely c.2694+2T>G and c.6028G>A. Her sister carried the same variants with similar clinical phenotypes. Her daughter was heterozygous for the c.6028G>A variant but was phenotypically normal. CONCLUSION The clinical features and genetic variants were delineated in this family with Usher syndrome type I. The results have enriched the phenotype and genotype data of the disease and provided a basis for genetic counseling.
Child ; Female ; Genetic Variation ; Genotype ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Myosin VIIa ; genetics ; Night Blindness ; etiology ; Pedigree ; Phenotype ; Usher Syndromes ; genetics ; pathology

No abstract available.
Adult ; Alleles ; Asian Continental Ancestry Group/*genetics ; Bardet-Biedl Syndrome/diagnosis/*genetics ; Base Sequence ; Blindness/pathology ; DNA/chemistry/metabolism ; Exons ; *Heterozygote ; Humans ; Macular Degeneration/diagnosis ; Male ; *Mutation ; Pedigree ; Phenotype ; Polymorphism, Single Nucleotide ; Proteins/*genetics ; Republic of Korea

OBJECTIVETo detect genetic mutations associated with autosomal dominant congenital stationary night blindness (ADCSNB) in a family from Henan province.

METHODSGenomic DNA was extracted from peripheral blood samples of 14 family members. Based on 3 genes reported previously, PCR primers were designed and corresponding exons containing the mutation sites were amplified with PCR. PCR products were purified and directly sequenced.

RESULTSA c.281C>T heterozygous missense mutation was detected in RHO gene in all of the patients. This mutation can cause a change of the protein structure (p.Thr94Ile). The same mutation was not detected in normal individuals from the family and 50 normal controls.

CONCLUSIONA c.281C>T mutation in RHO gene is responsible for the onset of ADCSNB in this Chinese family and results in symptoms of night blindness.

Adult ; Amino Acid Sequence ; China ; DNA Mutational Analysis ; methods ; Eye Diseases, Hereditary ; Female ; Genetic Diseases, X-Linked ; Genetic Predisposition to Disease ; Humans ; Male ; Molecular Sequence Data ; Mutation, Missense ; Myopia ; genetics ; Night Blindness ; genetics ; Rhodopsin ; genetics ; Sequence Alignment ; methods