ABSTRACT
OBJECTIVE@#To explore the clinical and genetic features of a child with autosomal dominant mental retardation type 40 (MRD40) due to variant of the CHAMP1 gene.@*METHODS@#Clinical characteristics of the child were analyzed. Genetic testing was carried out by low-depth high-throughput and whole genome copy number variant sequencing (CNV-seq) and whole exome sequencing (WES). A literature review was also carried out for the clinical phenotype and genetic characteristics of patients with MRD40 due to CHAMP1 gene variants.@*RESULTS@#The child, a 11-month-old girl, has presented with intellectual and motor developmental delay. CNV-seq revealed no definite pathogenic variants. WES has detected the presence of a heterozygous c.1908C>G (p.Y636*) variant in the CHAMP1 gene, which was carried by neither parent and predicted to be pathogenic. Literature review has identified 33 additional children from 12 previous reports. All children had presented with developmental delay and mental retardation, and most had dystonia (94.1%), delayed speech and/or walking (85.2%, 82.4%) and ocular abnormalities (79.4%). In total 26 variants of the CHAMP1 gene were detected, with all nonsense variants being of loss-of-function type, located in exon 3, and de novo in origin.@*CONCLUSION@#The heterozygous c.1908C>G (p.Y636*) variant of the CHAMP1 gene probably underlay the WRD40 in this child. Genetic testing should be considered for children featuring global developmental delay, mental retardation, hypertonia and facial dysmorphism.
Subject(s)
Humans , Intellectual Disability/genetics , Genetic Testing , Phenotype , Exome Sequencing , Heterozygote , Mutation , Chromosomal Proteins, Non-Histone/genetics , Phosphoproteins/geneticsABSTRACT
OBJECTIVE@#To explore the clinical and genetic characteristics of three children with KBG syndrome.@*METHODS@#Clinical data of the three children from two families who have presented at the First Affiliated Hospital of Zhengzhou University between October 2019 and September 2020 and their family members were collected. Trio-whole exome sequencing (trio-WES) and Sanger sequencing were carried out.@*RESULTS@#All children had feeding difficulties, congenital heart defects and facial dysmorphism. The sib- pair from family 1 was found to harbor a novel de novo heterozygous c.6270delT (p.Q2091Rfs*84) variant of the ANKRD11 gene, whilst the child from family 2 was found to harbor a novel heterozygous c.6858delC (p.D2286Efs*51) variant of the ANKRD11 gene, which was inherited from his mother who had a mild clinical phenotype.@*CONCLUSION@#The heterozygous frameshift variants of the ANKRD11 gene probably underlay the disease in the three children. Above findings have enriched the spectrum of the ANKRD11 gene variants.
Subject(s)
Female , Child , Humans , Abnormalities, Multiple/genetics , Intellectual Disability/genetics , Bone Diseases, Developmental/genetics , Tooth Abnormalities/genetics , Facies , Repressor Proteins/genetics , Mothers , MutationABSTRACT
Objective To understand the basic situation and existing problems of cost accounting information construction in the traditional Chinese medicine hospital. Methods We made a cross-sectional study of all traditional Chinese medicine hospitals cost accounting informatization, and then analyzed the results. Results In the survey of 1588 traditional Chinese medicine hospitals, there exists the problem with 78.65%for limited software;57.43%for not sharing between the systems;43.20%for outdated software. The occupancy rate was 81.86%for HIS system, 87.09%for the accounting software, 39.11%for cost accounting software, 5.42%for none. The proportion of hospitals was over 95% whose income data statistics to department;80% for spending data;73.05%for fixed assets depreciation cost;51.39%for amortization of intangible assets and 52.77%for medical risk fund. The proportion of hospitals was 81.49%whose data inside services statistics to medical auxiliary departments and higher than the logistics department, which was 63.85%.Conclusion The occupancy rate of cost accounting system software was limited in traditional Chinese medicine hospitals. The problems were limited cost accounting system software and unavailable information shared between the systems.