Novel autosomal recessive gene mutations in aquaporin-2 in two Chinese congenital nephrogenic diabetes insipidus pedigrees

被引:0
作者
Cen, Jing
Nie, Min
Duan, Lian
Gu, Feng [1 ,2 ]
机构
[1] Peking Union Med Coll, Key Lab Endocrinol, Peking Union Med Coll Hosp, Minist Hlth,Dept Endocrinol, Beijing 100730, Peoples R China
[2] Chinese Acad Med Sci, Beijing 100730, Peoples R China
来源
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE | 2015年 / 8卷 / 03期
基金
中国国家自然科学基金;
关键词
Congenital; nephrogenic diabetes insipidus (NDI); aquaporin-2; mutation; autosomal recessive; MISSENSE MUTATION; AVPR2; RECEPTOR; FAMILY; AQP2;
D O I
暂无
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
Recent evidence has linked novel mutations in the arginine vasopressin receptor 2 gene (AVPR2) and aquaporin-2 gene (AQP2) present in Southeast Asian populations to congenital nephrogenic diabetes insipidus (NDI). To investigate mutations in 2 distinct Chinese pedigrees with NDI patients, clinical data, laboratory findings, and genomic DNA sequences from peripheral blood leukocytes were analyzed in two 5.5- and 8-year-old boys (proband 1 and 2, respectively) and their first-degree relatives. Water intake, urinary volume, body weight and medication use were recorded. Mutations in coding regions and intron-exon borders of both AQP2 and AVPR2 gene were sequenced. Three mutations in AQP2 were detected, including previously reported heterozygous frameshift mutation (c.127_128delCA, p.Gln43Aspfs x63) inherited from the mother, a novel frameshift mutation (c.501_502insC, p.Val168Argfs x30, inherited from the father) in proband 1 and a novel missense mutation (c.643G> A, p.G215S), inherited from both parents in proband 2. In family 2 both parents and one sister were heterozygous carriers of the novel missense mutation. Neither pedigree exhibited mutation in the AVPR2 gene. The patient with truncated AQP2 may present with much more severe NDI manifestations. Identification of these novel AQP2 gene mutations expands the AQP2 genotypic spectrum and may contribute to etiological diagnosis and genetic counseling.
引用
收藏
页码:3629 / 3639
页数:11
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