title: A novel splice site mutation of the arginine vasopressin-neurophysin II gene identified in a kindred with autosomal dominant familial neurohypophyseal diabetes insipidus.
abstract: Autosomal dominant familial neurohypophyseal diabetes insipidus is an inherited deficiency of arginine vasopressin (AVP), and this is caused by mutations in the AVP-neurophysin II (AVP-NP II) gene. Most of these mutations have been located in the signal peptide or in the NP II moiety. In the present study, we have analyzed the AVP-NP II gene in a Korean family. Clinical and genetic studies were performed on three members of the family, and on a normal healthy unrelated individual. The diagnosis of neurohypophyseal diabetes insipidus was done by performing a fluid deprivation test and a vasopressin challenge. For genetic analysis, the genomic DNA was extracted and the AVP-NP II gene was amplified by polymerase chain reaction (PCR). Clinical assessment of the affected individuals confirmed the diagnosis of neurohypophyseal diabetes insipidus. Genetic analysis of the AVP-NP II gene revealed a novel deletion mutation of a single nucleotide (guanine) within the splice acceptor site of intron 2 (IVS2 +1 delG). The affected individuals were heterozygous for this mutation. We also demonstrated through RT-PCR analysis of the mutant gene that this mutation resulted in the retention of intron 2 during pre-mRNA splicing. We concluded that a novel splicing mutation in the AVP-NP II gene causes neurohypophyseal diabetes insipidus in this family.
authors: Department of Internal Medicine, The Catholic University of Korea, College of Medicine, Seoul, Republic of Korea.
authors: Hyun-Jung
authors: HJ
authors: Tae
authors: Ki-Hyun
authors: KH
authors: Baek
authors: Sun-Mi
authors: SM
authors: Shim
authors: Soon-Jib
authors: SJ
authors: Yoo
authors: Moo-Il
authors: MI
authors: Kang
authors: Bong-Yun
authors: BY
authors: Cha
authors: Kwang-Woo
authors: KW
authors: Lee
authors: Ho-Young
authors: HY
authors: Son
authors: Sung-Koo
authors: SK
authors: Kang
mesh_terms: D000595:Amino Acid Sequence; D001127:Arginine Vasopressin / Q000235:genetics*; D001483:Base Sequence; D017931:DNA Primers; D003919:Diabetes Insipidus / Q000235:genetics*; D004587:Electrophoresis, Agar Gel; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009154:Mutation; D009481:Neurophysins / Q000235:genetics*; D010375:Pedigree; D010900:Pituitary Diseases / Q000235:genetics*; D012326:RNA Splicing; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D009481:Neurophysins; D001127:Arginine Vasopressin