ABSTRACT
OBJECTIVE@#To analyze the clinical phenotype and genetic variant of a child with Snijders Blok-Campeau syndrome (SBCS).@*METHODS@#A child who was diagnosed with SBCS in June 2017 at Henan Children's Hospital was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and the extraction of genomic DNA, which was subjected to trio-whole exome sequencing (trio-WES) and genome copy number variation (CNV) analysis. Candidate variant was verified by Sanger sequencing of his pedigree members.@*RESULTS@#The main clinical manifestations of the child have included language delay, intellectual impairment and motor development delay, which were accompanied with facial dysmorphisms (broad forehead, inverted triangular face, sparse eyebrows, widely spaced eyes, narrow palpebral fissures, broad nose bridge, midface hypoplasia, thin upper lip, pointed jaw, low-set ears and posteriorly rotated ears). Trio-WES and Sanger sequencing revealed that the child has harbored a heterozygous splicing variant of the CHD3 gene, namely c.4073-2A>G, for which both of his parents were of wild-type. No pathogenic variant was identified by CNV testing.@*CONCLUSION@#The c.4073-2A>G splicing variant of the CHD3 gene probably underlay the SBCS in this patient.
Subject(s)
DNA Copy Number Variations , Heterozygote , Pedigree , Phenotype , RNA Splicing , MutationABSTRACT
OBJECTIVE@#To explore the genetic basis for a Chinese pedigree with suspected mitochondrial functional defects through combined next-generation sequencing (NGS), copy number variation sequencing (CNV-seq), and mitochondrial DNA (mtDNA) sequencing.@*METHODS@#Clinical data of the proband and his family members were collected. The patient and his parents were subjected to family-trio whole-exome sequencing (WES), CNV-seq and mtDNA variant detection. Candidate variant was verified by Sanger sequencing.@*RESULTS@#Trio-WES revealed that the proband has carried compound heterozygous variants of the NDUFS1 gene, including a paternally derived c.64C>T (p.R22X) nonsense variant and a maternally derived c.845A>G (p.N282S) missense variant. Both variants may cause loss of protein function. No variant that may cause the phenotype was identified by CNV-seq and mtDNA variant analysis.@*CONCLUSION@#Children with suspected mitochondrial disorders may have no specific syndromes or laboratory findings. A comprehensive strategy including mtDNA testing may facilitate the diagnosis and early clinical interventions.
Subject(s)
Child , Humans , China , DNA Copy Number Variations , Electron Transport , Mutation , NADH Dehydrogenase/genetics , PedigreeABSTRACT
Objective To investigate the relationship between the quality of life and different frequency of sudden death in Yunnan unexplained sudden death disease area.Methods According to the stratified cluster sampling method,728 individuals were selected as the respondents in Heqing County,Eryuan County of Dali Bai Autonomous Prefecture,and in Dayao County of Chuxiong Yi Autonomous Prefecture.According to the random sampling,649 individuals were selected as the control in Yongping County,Dali Bai Autonomous Prefecture.Data of the quality of life (WHOQOL-BREF version) were collected through household surveys.Analysis method including ANOVA,Chi-squared test and multilinear regression were used.Results Compared with the control population,the household income of population in the diseased area was not significantly different statistically (x2 =7.052,P ＞ 0.05).But the differences in education level and chronic disease situation were statistically significant (x2 =35.727,9.810,all P ＜ 0.05).According to the frequency of the sudden death,from one to four,the total scores of the quality of life,the scores of the physiology domain,the scores of the psychological domain,the scores of the environmental domain and the scores of the social relations domain (1 time:54.30,13.74,14.43,11.21,14.91;2 times:54.75,13.86,14.65,11.12,15.10;3 times:52.40,13.21,13.76,11.00,14.41;4 times:49.21,12.15,12.54,9.87,14.64)were all lower than those of the control group (56.03,14.11,14.78,11.88 and 15.26),the differences between two groups were statistically significant (x2 =41.88,25.75,41.07,35.07,8.08,all P ＜ 0.05);the total scores and each domain score of the quality of life were negatively correlated with the frequency of sudden death (the multi-variables regression coefficient were as follows:-1.195,-0.341,-0.356,-0.314,and-0.185,all P ＜ 0.05).Conclusions The quality of life of those who have lived in Yunnan unexplained sudden death area is associated with the outbreak frequency of sudden death.Following increasing of the outbreak frequency of Yunnan unexplained sudden death,the quality of life of the population living in Yunnan unexplained sudden death area has decreased.
ABSTRACT
Objective To explore the correlations between the social support and the quality of life to them who live in Yunnan sudden unexplained death ward,and provide a scientific basis for taking effective measures to improve the people' s quality of life in the ward.Methods Using the cross-sectional household survey to collect the information of the inhabitants on social support and quality of life by the Social Support Scale,and the WHOQOL-brief Scale.Results The total score of social support,scores of subjective support,objective support in Yunnan sudden death ward ((40.85±8.34),(9.58±3.58),(23.86±4.87)) were lower than those of the control group in the same dimension ((41.82±7.12),(10.47±3.26),(24.51±4.68)) (all P＜0.05).But the score of social support utility in Yunnan sudden death ward (7.41±2.67)was no significant difference between the two groups (6.84±2.56,P＞0.05).After using multiple linear regression to control other confounding factors,such as house-hold income per capita,scores of social support,subjective support,objective support and social support utility were positively correlated with the score of quality of life in Yunnan sudden death ward (the correlation coefficient between the scores of social support and the dimensions related to the quality of life were 0.30,0.11,0.29,0.28,0.36;the correlation coefficient between the scores of objective support and the dimensions related to the quality of life were 0.15,0.05,0.13,0.14,0.19;the correlation coefficient between the scores of subjective social support and the dimensions related to the quality of life were 0.18,0.06,0.21,0.23; the correlation coefficient between the scores of social support utility and the dimensions related to the quality of life were 0.11,0.05,0.10,0.09,0.11 (all P＜0.05).Conclusions The people who live in Yunnan sudden death ward get less social support and social support utility is low,which cause the worse quality of their life.To make this situation better,more social support is necessary to enhance the utilization.