RESUMO
OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with resistance to thyroid hormone syndrome (RTH).@*METHODS@#Exons 7 to 10 of the THRbeta gene were sequenced for the proband and members of his pedigree.@*RESULTS@#Three patients from the pedigree were identified. All have presented with palpitation, fatigue, goiter, elevated free thyroid hormone and free triiodothyronine, and normal or elevated thyrotropin. Genetic testing revealed that the proband, his mother, second sister and one of her daughters had carried a heterozygous c.1336T>A variant of the THRbeta gene, which resulted in substitution of Cysteine by Serine at position 446. The variant was unreported previously. Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.1336T>A(p.Cys446Ser) variant of THRbeta gene was predicted to be lilely pathogenic(PM1+PM2+PM5+PP3).@*CONCLUSION@#The c.1336T>A variant, identified in the exon 10 of the THRbeta gene, probably underlay the RTH in this pedigree. Genetic testing has validated the clinical diagnosis for this pedigree.
Assuntos
Feminino , Humanos , Genômica , Heterozigoto , Mães , Mutação , LinhagemRESUMO
Objective To explore the relationship between serum 25-hydroxy vitamin D 3 level and carotid atherosclerosis plaque in elderly patients with type 2 diabetes .Methods 308 elderly patients with type 2 diabetes were selected .The carotid artery intimal plaque was measured .According to the characteristics and size of plaque ,they were divided into the medium/big group,small plaque group and no plaque group .Blood pressure,body mass index (BMI),fasting plasma glucose(FPG),glycosylated hemoglobin(HbA1c),blood lipids,c-reactive protein(CRP)and the concentration of serum 25-hydroxy vitamin D 3 were detected .The risk factors forcarotid atherosclerosis plaque were analyzed,exploring the the relationship between serum 25-hydroxy vitamin D3 level and carotid atherosclerosis plaque . Results Age,CRP(4.21 ±1.61) mg/L in the medium/big group was significantly higher than those of the small plaque group(3.41 ±1.92)mg/L and the no plaque group(2.52 ±1.18)mg/L(t=1.96,3.14,all P<0.05).The level of serum 25-hydroxy vitamin D3 in the medium/big group(15.28 ±5.86)nmol/L was significantly less than that of the small plaque group(24.30 ±7.60)nmol/L and the no plaque group(32.74 ±8.13)nmol/L(t=4.67,3.41,all P<0.01).The level of serum 25-hydroxy vitamin D3 in the small plaque group was significantly less than that of the no plaque group(t=2.51,P<0.05).There was positive correlation between carotid atherosclerotic plaques and age , BMI,HbA1c,CRP and LDL-C( r=0.45,0.38,0.53,0.47,all P<0.05).There was negtive correlation between carotid atherosclerotic plaques and 25-hydroxy vitamin D3(r=-0.62,P<0.05).Logstic regression analysis showed that age,BMI,HbA1c,CRP,LDL-C and 25-hydroxy vitamin D3 were independent risk factors for the development of carotid atherosclerotic plaque .Conclusion The risk factors for carotid atherosclerotic plaques in elderly patients with type 2 diabetes are age,BMI,HbA1c,CRP,LDL-C and 25-hydroxy vitamin D3 concentration.25-hydroxy vitamin D3 may be a predictor of carotid atherosclerotic plaques .