Heterozygous activating mutations in the KCNJ11 gene can cause permanent and transient neonatal diabetes. In the present study, we sequenced the KCNJ11 gene in a Chinese boy diagnosed with permanent neonatal diabetes mellitus (PNDM) and also in his parents. A heterozygous 175G>A (V59M) mutation was identified in the patient, while no KCNJ11 gene mutations were found in his parents, indicating that this mutation is de novo. The patient with the V59M mutation successfully switched from insulin injections to oral glibenclamide; 2 years of follow-up revealed that the patient had intermediate developmental delay, epilepsy and neonatal diabetes (DEND) syndrome. This is the first patient who is reported to have iDEND syndrome due to KCNJ11 V59M mutation in China.
基金：
National Natural Science Foundation of ChinaNational Natural Science Foundation of China [81041016]; Beijing Science and Technology Committee, China [9558102700]
第一作者机构：[1]Capital Med Univ, Beijing Children Hosp, Minist Educ, Dept Endocrinol,Natl Key Discipline Pediat, Beijing 100045, Peoples R China
通讯作者：
通讯机构：[1]Capital Med Univ, Beijing Children Hosp, Minist Educ, Dept Endocrinol,Natl Key Discipline Pediat, Beijing 100045, Peoples R China
推荐引用方式(GB/T 7714)：
Sang Yanmei,Ni Guichen,Gu Yi,et al.A V59M KCNJ11 gene mutation leading to intermediate DEND syndrome in a Chinese child[J].JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM.2011,24(9-10):763-766.doi:10.1515/JPEM.2011.258.
APA：
Sang, Yanmei,Ni, Guichen,Gu, Yi&Liu, Min.(2011).A V59M KCNJ11 gene mutation leading to intermediate DEND syndrome in a Chinese child.JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM,24,(9-10)
MLA：
Sang, Yanmei,et al."A V59M KCNJ11 gene mutation leading to intermediate DEND syndrome in a Chinese child".JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM 24..9-10(2011):763-766
