ABSTRACT
Objective:To explore the clinical characteristics and genetics of a pedigree with Stargardt disease, and investigate the pathogenicity of ABCA4 (ATP binding cassette subfamily A member 4) gene mutations in Stargardt disease.Methods:The proband was admitted to the Second People′s Hospital of Jinan in May 2021 due to diminution of vision. The proband was diagnosed with Stargardt disease according to the clinical diagnostic criteria of Stargardt disease. Detailed ophthalmological examinations was also performed on family members of the proband. Genomic DNA were extracted from the proband and the family members, and the whole exon sequencing was performed to find pathogenic gene mutations. The hazard of mutations was analyzed by polyphen-2, SIFT and MutationTaster websites. Sanger sequencing was used to verify the mutations. Conserved analysis of homologous species and 3-dimensional (3D) molecular model of the protein were used to analyze the pathogenicity.Results:Ophthalmological examinations showed reduced binocular vision, macular atrophy and "bull′s eye sign" in the proband and there was no abnormal signs and symptoms among the family members. Through whole exon sequencing analysis and Sanger sequencing verification, the compound heterozygous mutations (c.215G>A and c.6563T>C) of ABCA4 gene were co-segregated with this disease in this family. SIFT, Polyphen-2 and MutationTaster predicted that these two mutations were pathogenic. Conservative analysis and 3D molecular model of protein showed that mutations could cause changes in protein structure and affect protein function.Conclusion:The compound heterozygous mutations (C.215G>A and C.6563T>C) of ABCA4 gene are the pathogenic mutations of Stargardt disease in this pedigree.
ABSTRACT
Objective To analyze cancer incidence and mortality in Fujian in 2012 and to provide sci-entific basis for tumor prevention .Methods In accordance with the methods and criteria of data quality control made by NCCR,7 regristries data qualified from 9 submitted regritries in Fujian after data assessment were mer-ged and analyzed.Results In 2012,the cancer incidence rate was 251.44/105 (308.44/105 in male and 193.03/105 in female),age standardized incidence by Chinese standard population (ASR China)and by world standard population(ASR world)were 205.15/105 and 201.11/105.The cumulative incidence(0~74 age)was 23.51%.The mortality rate was 161.85/105(220.87/105 in male and 101.37/105 in female).ASR China and ASR world were 128.54/105 and 127.70/105 the cumulative incidence(0~74 age)was 15.04%.The age-spe-cific incidence and mortality reached maximum value in 75 ages and 80 ages respectively .The top 5 cancer inci-dences were lung cancer ,stomach cancer ,liver cancer ,esophagus cancer and breast cancer .The top 5 cancer mor-tality were lung cancer ,liver cancer ,stomach cancer ,esophagus cancer and colorectum cancer .Conclusion Di-gestive malignancies ,lung cancer ,and breast cancer in female were the most frequent in Fujian province ,and the prevention and control for those cancers should be enhanced .