A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus

被引:9
|
作者
Mundschenk, J
Rittig, S
Siggaard, C
Hensen, J
Lehnert, H
机构
[1] Univ Hosp Magdeburg, Dept Endocrinol & Metab, D-39120 Magdeburg, Germany
[2] Skejby Univ Hosp Aarhus, Dept Pediat, Aarhus, Denmark
[3] Hannover Nordstadt Hosp, Dept Internal Med, Hannover, Germany
关键词
neurohypophyseal diabetes insipidus; arginine vasopressin neurophysin II gene point mutation;
D O I
10.1055/s-2001-18994
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Familial neurohypophyseal diabetes insipidus (FNDI) is an autosomally dominant inherited disorder with a typical onset at one to six years of age. The genetic locus of FNDI is the arginine vasopressin-neurophysin II (AVP-NPII) gene. The gene encoding the precursor hormone (prepro-AVP-neurophysin II) is located in the chromosomal region 20p13 and contains three exons. Mutations that cause FNDI have been found to occur within the signal peptide of the prepro-AVP-neurophysin II precursor, within the coding sequence for neurophysin II and the vasopressin-coding sequence. - A family (four members with FNDI, two without FNDI) in three consecutive generations was investigated. - Index case was a now 22-year old man with a history of severe polyuria (18 L/day) and polydipsia First recognized at about 4-5 months of age. - The arginine vasopressin-neurophysin II gene was investigated by direct sequencing of PCR products amplified from each exon. Subsequently, a restriction analysis was performed to verify the sequencing results. - The affected individuals were found to have a missense mutation in exon 2 at nucleotide position 1887 (G to C) of the AVP-NPII gene. Using both restriction enzyme digestion and sequence analysis, the mutation was found in all affected family members, but not in the unaffected members studied. This mutation (1887 G to C) represents a novel mutation of the AVP-NPII gene.
引用
收藏
页码:406 / 409
页数:4
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