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Chinese Journal of Medical Genetics ; (6): 833-837, 2021.
Article in Chinese | WPRIM | ID: wpr-921949


OBJECTIVE@#To analyze gene variants in a Chinese pedigree with oculocutaneous albinism (OCA).@*METHODS@#Gene sequencing of the proband and his parents was performed using chip capture high-throughput sequencing and Sanger sequencing techniques, and PolyPhen-2, SIFT, MutationTaster, and FATHMM software were used to predict the function of new variants. At the same time,the pedigree and variant genes of 4 albinism patients from this pedigree were analyzed.@*RESULTS@#Sequencing results showed that the proband's TYR gene (NM_000372) has c.230G>A (p.Arg77Gln) and c.120_121insG (p.Asp42GlyfsTer35) compound heterozygous variants. The proband's father carries c.230G>A heterozygous variant, and the mother carries c.120_121insG heterozygous variant, indicating that the proband's two variants are from his father and mother. The former is a known missense variant, which can cause abnormal or loss of the original function of the protein polypeptide chain. The latter c.120_121insG(p.Asp42GlyfsTer35) is an unreported frameshift variant of the TYR gene subregion (EX1; CDS1). PolyPhen-2, SIFT, MutationTaster and FATHMM predictions are all prompted as "harmful variants". This variant caused the amino acid encoded protein to terminate prematurely, producing a truncated protein, which eventually formed a 76-amino acid short-type TYR protein instead of the 529-amino acid wild-type TYR protein. Through the pedigree analysis, the four patients in the pedigree are all of the same type of compound heterozygous variants, and the disease-causing genes are all from the patient's parents. They belong to a special form of consanguineous marriage within 5 generations.@*CONCLUSION@#The compound heterozygous variants of c.230G>A (p.Arg77Gln) and c.120_121insG (p.Asp42GlyfsTer35) of the TYR gene may underlie the disease in this pedigree. The gene sequencing results enrich the variant spectrum of the TYR gene, and has facilitated molecular diagnosis for the patient.

Humans , Albinism, Oculocutaneous/genetics , Consanguinity , Heterozygote , Mutation , Pedigree
Chinese Pediatric Emergency Medicine ; (12): 616-620, 2016.
Article in Chinese | WPRIM | ID: wpr-503604


Objective To observe and compare the value of B brain natriuretic peptide( BNP)and N-terminal pro-brain natriuretic peptide( NT-proBNP)in the diagnosis of heart failure after neonatal asphyxia, and to optimize early clinical diagnosis. Methods A retrospective analysis was conducted on 124 neonatal asphyxia cases from January 2013 to October 2015,who were divided into heart failure group(53 cases)and control group(71 cases)according to whether complicated with heart failure. Comparison was conducted on BNP,NT-proBNP,cardiac troponin T( cTnT),creatine kinase isoenzyme( CK-MB)through blood sam-pling from femoral vein puncture within 48 h. And Logistic regression analysis was introduced into explore effecting factors of heart failure,besides,correlations between BNP,NT-proBNP and left ventricular ejection fraction( LVEF)of asphyxia children were calculated,and receiver operating characteristic curve( ROC)was introduced into analyzing of BNP and NT-proBNP for diagnostic efficacy of heart failure after neonatal asphyxia. Results Heart failure group whose BNP[(835. 8 ± 154. 7)pg/ml vs. (235. 4 ± 38. 5)pg/ml], NT-proBNP(25 903. 8 pg/ml vs. 6 974. 5 pg/ml),cTnT[(0. 21 ± 0. 06)ng/ml vs. (0. 11 ± 0. 03)ng/ml], CK-MB[(61. 3 ± 11. 7)U/L vs. (40. 8 ± 9. 5)U/L]were significantly higher than those of control group ( P﹤0. 05). Logistic regression analysis indicated BNP and NT-proBNP were closely related with newborn heart failure(ORBNP =3. 013,P﹤0. 001;ORNT-proBNP =3. 808,P=0. 006). BNP and NT-proBNP were both significantly negatively correlated with LVEF(rBNP = -0. 650,P=0. 007;rNT-proBNP = -0. 721,P﹤0. 001). The ROC curve indicated the diagnostic efficacy of BNP and NT-proBNP for heart failure after neonatal as-phyxia were 0. 868,0. 911,with the highest diagnosis cut-off value were 268. 8 pg/ml,3 972. 3 pg/ml,respec-tively. Conclusion BNP and NT proBNP are specific indicators reflecting heart failure after neonatal as-phyxia,and NT-proBNP with higher auxiliary diagnostic efficacy comparatively.