发育性和癫痫性脑病93(Developmental and epileptic encephalopathy 93,DEE93)(MIM:618012)是一种常染色体显性遗传神经系统疾病,主要特点为精神运动发育迟缓、早发难治性癫痫和智力低下等,且与ATP6V1A基因变异有关^([1])。DEE93临床...发育性和癫痫性脑病93(Developmental and epileptic encephalopathy 93,DEE93)(MIM:618012)是一种常染色体显性遗传神经系统疾病,主要特点为精神运动发育迟缓、早发难治性癫痫和智力低下等,且与ATP6V1A基因变异有关^([1])。DEE93临床表现差异大,病情轻重不一,重者可因快速进展的早期致命性脑病而死亡,轻者仅表现为轻度至中度智力障碍,伴或不伴癫痫发作^([2-3])。ATP6V1A基因(MIM#607027)染色体位置为3q13.3,包含15个外显子,编码617个氨基酸,是组成ATP酶(V-ATPase)的一个亚基,参与介导真核细胞内的质子运输过程和细胞器的酸化。本文报告了1例全外显子测序发现ATP6V1A基因杂合致病性变异c.937G>C:p.Ala313Pro的婴儿,描述了其临床表现并复习相关文献内容,扩展了ATP6V1A基因突变相关DEE93的临床特征和遗传谱,为该病的诊断、治疗和遗传咨询提供参考。展开更多
Objective:To investigate the birth defect condition in Haidian district of Beijing city,61 272 live-born infants who were delivered in Haidian Maternal and Child Health Hospital from 2003 to the March of 2009 are anal...Objective:To investigate the birth defect condition in Haidian district of Beijing city,61 272 live-born infants who were delivered in Haidian Maternal and Child Health Hospital from 2003 to the March of 2009 are analyzed. Methods:Data was collected from the hospital's medical records and from the birth defect surveillance. Results:Among the newborns studied,1 076 were found having birth defect (17.56‰). The most common birth defects are congenital heart defect,followed by dysmorphosis of external ear,polydactyly,hypospadia,cleft lip and palate. In addition,three birth defects that are not included in the birth defect surveillance list were enorchia,renal agenesis and giant hemangioma. The birth defect rates of preterm and small for gestational age infants are significantly higher than it of the term infants. The birth defect patterns for these two types of abnormal infants are distinct. Conclusion:We have determined the pattern of birth defects in Beijing,which may help in policy-making regarding the prevention and intervention of birth defects.展开更多
文摘发育性和癫痫性脑病93(Developmental and epileptic encephalopathy 93,DEE93)(MIM:618012)是一种常染色体显性遗传神经系统疾病,主要特点为精神运动发育迟缓、早发难治性癫痫和智力低下等,且与ATP6V1A基因变异有关^([1])。DEE93临床表现差异大,病情轻重不一,重者可因快速进展的早期致命性脑病而死亡,轻者仅表现为轻度至中度智力障碍,伴或不伴癫痫发作^([2-3])。ATP6V1A基因(MIM#607027)染色体位置为3q13.3,包含15个外显子,编码617个氨基酸,是组成ATP酶(V-ATPase)的一个亚基,参与介导真核细胞内的质子运输过程和细胞器的酸化。本文报告了1例全外显子测序发现ATP6V1A基因杂合致病性变异c.937G>C:p.Ala313Pro的婴儿,描述了其临床表现并复习相关文献内容,扩展了ATP6V1A基因突变相关DEE93的临床特征和遗传谱,为该病的诊断、治疗和遗传咨询提供参考。
文摘Objective:To investigate the birth defect condition in Haidian district of Beijing city,61 272 live-born infants who were delivered in Haidian Maternal and Child Health Hospital from 2003 to the March of 2009 are analyzed. Methods:Data was collected from the hospital's medical records and from the birth defect surveillance. Results:Among the newborns studied,1 076 were found having birth defect (17.56‰). The most common birth defects are congenital heart defect,followed by dysmorphosis of external ear,polydactyly,hypospadia,cleft lip and palate. In addition,three birth defects that are not included in the birth defect surveillance list were enorchia,renal agenesis and giant hemangioma. The birth defect rates of preterm and small for gestational age infants are significantly higher than it of the term infants. The birth defect patterns for these two types of abnormal infants are distinct. Conclusion:We have determined the pattern of birth defects in Beijing,which may help in policy-making regarding the prevention and intervention of birth defects.
