Myotonic dystrophy type 1 (DM1),or Steiner’s disease,is an autosomal dominant disorder caused by the expansion of unstable trinucleotide repeats (CTG) in the 3’ untranslated region of the myotonic dystrophy protein ...Myotonic dystrophy type 1 (DM1),or Steiner’s disease,is an autosomal dominant disorder caused by the expansion of unstable trinucleotide repeats (CTG) in the 3’ untranslated region of the myotonic dystrophy protein kinase gene (DMPK) (Brook et al.,1992;Mahadevan et al.,1992).The number of CTG repeats observed in normal individuals is in a range of 5-34,while the individuals with 35-49 CTG repeats are usually asymptomatic but at risk of展开更多
Objective:Pulmonary atresia(PA)is a rare type of complex cyanotic congenital heart defect characterized primarily by an undeveloped pulmonary valve or pulmonary artery.Therefore,defining a disease-causing gene mutatio...Objective:Pulmonary atresia(PA)is a rare type of complex cyanotic congenital heart defect characterized primarily by an undeveloped pulmonary valve or pulmonary artery.Therefore,defining a disease-causing gene mutation in a pulmonary atresia family is a possible method of genetic counseling,future prenatal diagnosis,and therapeutic approaches for pulmonary atresia.Methods:Blood samples were collected from six PA family members,and genomic DNA was extracted using the QIAamp DNA Blood Mini Kit.Gene detection was performed using a second-generation sequencing gene panel.Results:Genetic testing results indicated that a heterozygous mutation originating from maternal inheritance was detected in the BMPR2 gene of the proband’s genomic DNA.The pathogenic gene was c.2804C>T(p.A935V).The mutation was also detected in the genomic DNA of the proband’s elder brother(III-1),but not in other family members.Conclusion:To the best of our knowledge,this is the first study to report the BMPR2 variant responsible for pulmonary atresia.The frequency of the c.2804C>T(p.A935V)mutation detected in this family is extremely low in the normal population(1/246048).The mutation was highly conserved among different species.Sorting intolerant from tolerant(SIFT)predicts it to be a harmful mutation.展开更多
基金supported by the National Basic Research Program of China(2010CB529601 and 2013CB945404)to B.L.Wuthe Fudan Young Teacher Funding to Y.An,the higher Education Research Project of Gansu Province(2015B-094)to X.LanShanghai Children’s Hospital Funding(2016YMS001)to X.Lan
文摘Myotonic dystrophy type 1 (DM1),or Steiner’s disease,is an autosomal dominant disorder caused by the expansion of unstable trinucleotide repeats (CTG) in the 3’ untranslated region of the myotonic dystrophy protein kinase gene (DMPK) (Brook et al.,1992;Mahadevan et al.,1992).The number of CTG repeats observed in normal individuals is in a range of 5-34,while the individuals with 35-49 CTG repeats are usually asymptomatic but at risk of
基金This work was supported by Shanghai Children’s HospitalChinese National Natural Science Foundation,No.81371499。
文摘Objective:Pulmonary atresia(PA)is a rare type of complex cyanotic congenital heart defect characterized primarily by an undeveloped pulmonary valve or pulmonary artery.Therefore,defining a disease-causing gene mutation in a pulmonary atresia family is a possible method of genetic counseling,future prenatal diagnosis,and therapeutic approaches for pulmonary atresia.Methods:Blood samples were collected from six PA family members,and genomic DNA was extracted using the QIAamp DNA Blood Mini Kit.Gene detection was performed using a second-generation sequencing gene panel.Results:Genetic testing results indicated that a heterozygous mutation originating from maternal inheritance was detected in the BMPR2 gene of the proband’s genomic DNA.The pathogenic gene was c.2804C>T(p.A935V).The mutation was also detected in the genomic DNA of the proband’s elder brother(III-1),but not in other family members.Conclusion:To the best of our knowledge,this is the first study to report the BMPR2 variant responsible for pulmonary atresia.The frequency of the c.2804C>T(p.A935V)mutation detected in this family is extremely low in the normal population(1/246048).The mutation was highly conserved among different species.Sorting intolerant from tolerant(SIFT)predicts it to be a harmful mutation.
