RESUMO
OBJECTIVE@#To explore the genetic basis for two patients from a family with BCL11A-related intellectual disability (BCL11A-ID).@*METHODS@#Clinical data of the proband and her family members was analyzed. Chromosomal karyotyping analysis, trio-whole exome sequencing (trio-WES) and copy number variation sequencing (CNV-seq) were carried out. For the suspected genetic variants, Sanger sequencing was used to verify, and pathogenicity assessment was conducted.@*RESULTS@#The proband and her mother both had intellectual and language impairment, and their fetal hemoglobin (HbF) was significantly elevated. A heterozygous c.1327_c.1328delTC (p.Ser443Hisfs*128) variant was found in exon 4 of the BCL11A gene by WES, which has resulted in truncated expression of the encoded protein, and Sanger sequencing has verified that the variant was inherited from the mother. The variant was not found in related databases. The variant was predicted as pathogenic according to the guidelines from the American College of Medical Genetics and Genomics (ACMG) (PVS1+PM2+PP1). No karyotypic abnormality was found in the proband, her parents and brother, and no pathogenic CNVs was found in the proband and her parents.@*CONCLUSION@#The c.1327_c.1328delTC (p.Ser443Hisfs*128) variant may underlay the BCL11A-ID in the proband and her mother. This de novo variant has expanded the mutational spectrum of the BCL11A gene.
Assuntos
Humanos , Masculino , Feminino , Deficiência Intelectual/genética , Variações do Número de Cópias de DNA , Linhagem , Mutação , Fatores de Transcrição/genética , Mães , Proteínas Repressoras/genéticaRESUMO
Objective@#To analyze the correlation between Traditional Chinese Medicine (TCM) physical fitness and cardiovascular health behaviors among college students and to provide a reference for physical fitness management and primary prevention of cardiovascular diseases for college population.@*Methods@#From August to November 2021, 1 621 college students from three universities in Liaoning Province were selected by clustering random sampling method, and questionnaire survey was conducted using the TCM Physical Fitness Determination Scale and the cardiovascular health behavior index proposed by the American Heart Association to analyze the correlation between TCM physical fitness and cardiovascular health behavior among college students.@*Results@#Cigarette smoking was higher among male students (20.7%) and students majoring arts and sports(27.3%)( χ 2=184.99, 79.43, P < 0.05). Body mass index (BMI) was higher among male students (4.7%) and students majoring medicine(3.6%)( χ 2=64.11, 15.38 , P <0.05). Physical inactivity was more common among female students(39.6%), medical majors(45.2%), and students with a family history of cardiovascular disease(CVD)(33.4%)( χ 2=145.40, 189.91, 15.89, P <0.05). Unhealthy diet was more common among students with medical majors and no family history of CVD(45.8%, 43.1%)( χ 2=33.13, 15.57, P <0.05). Significant differences in TCM body composition were found among college students by gender, major, and family history of CVD( χ 2=101.22, 82.38, 90.42, P <0.01). Healthy diet (ideal) and physical exercise (ideal, average) were negatively associated with Qi deficiency ( OR =0.48, 0.19, 0.63), physical exercise (ideal, average) was negatively associated with Yang deficiency( OR =0.43, 0.68), BMI (ideal) and physical exercise (ideal) were negatively associated with Phlegm dampness( OR =0.21, 0.37), physical exercise (ideal) was negatively correlated with Damp heat and Blood stasis qualities ( OR =0.34, 0.20), and physical exercise (ideal, general) was negatively correlated with Qi yu qualities( OR =0.34, 0.51)( P <0.05).@*Conclusion@#TCM physical fitness is associated with cardiovascular health behavior, with varying effects of each indicator of cardiovascular health behavior on TCM physical fitness. Personalized cardiovascular interventions should be taken according to differential constitutions to provide reference for constitution regulation and cardiovascular disease prevention.
RESUMO
<p><b>OBJECTIVE</b>To investigate EXT1 and EXT2 genes mutations in a family with hereditary multiple osteochondromas (HME).</p><p><b>METHODS</b>A four-generation family with HME from Linyi city of Shandong Province was studied. There were 6 affected individuals among the 17 family members. Physical examination and radiographical evaluations were carried out for all family members. Genomic DNA was extracted from peripheral venous blood and the samples were subjected to mutation screening by PCR of the coding regions of EXT1 and EXT2 genes.</p><p><b>RESULTS</b>The family has featured an autosomal dominant inheritance pattern. Sequencing of the EXT1 and EXT2 genes suggested the causative gene in this family was in linkage with the second exon of EXT2. A c.244delG mutation was detected, which has resulted in a frameshift mutation p.Asp81IlefsX30. The mutation was found in all of the 6 affected individuals but not in normal family members. And the mutation has co-segregated with the phenotype.</p><p><b>CONCLUSION</b>The mutation c.244delG in the EXT2 gene is the probably the cause of the disease in this family.</p>