Two Novel Mutations in the Aquaporin 2 Gene in a Girl with Congenital Nephrogenic Diabetes Insipidus.
10.3346/jkms.2005.20.6.1076
- Author:
Hae Il CHEONG
1
;
Su Jin CHO
;
Shou Huan ZHENG
;
Hee Yeon CHO
;
Il Soo HA
;
Yong CHOI
Author Information
1. Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. cheonghi@plaza.snu.ac.kr
- Publication Type:Case Report ; Research Support, Non-U.S. Gov't
- Keywords:
Diabetes Insipidus, Nephrogenic;
aquaporin 2;
Mutation;
NPA Motif
- MeSH:
Aquaporin 2/*genetics;
Base Sequence;
Child, Preschool;
DNA/genetics;
DNA Mutational Analysis;
Diabetes Insipidus, Nephrogenic/congenital/*genetics;
Female;
Genes, Recessive;
Heterozygote;
Humans;
Infant;
Male;
Mutation, Missense;
Point Mutation;
Research Support, Non-U.S. Gov't
- From:Journal of Korean Medical Science
2005;20(6):1076-1078
- CountryRepublic of Korea
- Language:English
-
Abstract:
Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by insensitivity of the kidney to the antidiuretic effect of vasopressin. There are three inheritance patterns of CNDI: the X-linked recessive form associated with vasopressin V2 receptor gene mutations, and the autosomal recessive and dominant forms associated with aquaporin-2 gene (AQP2) mutations. The evaluation for polyuria and polydipsia in a one-month-old Korean girl revealed no response to vasopressin and confirmed the diagnosis of CNDI. Because the child was female without family history of CNDI, her disease was thought to be an autosomal recessive form. We analyzed the AQP2 gene and detected a compound heterozygous missense point mutation: (70)Ala (GCC) to Asp (GAC) in exon 1 inherited from her father and (187)Arg (CGC) to His (CAC) in exon 3 inherited from her mother. The first mutation is located within the first NPA motif of the AQP2 molecule and the second one right after the second NPA motif. This is the first report to characterize AQP2 mutations in Korean patients with autosomal recessive CNDI, and expands the spectrum of AQP2 mutations by reporting two novel mutation, (70)Ala (GCC) to Asp (GAC) and (187)Arg (CGC) to His (CAC).
