title: Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family.
abstract: Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is a rare autosomal dominant disorder characterized by polyuria and polydipsia due to deficiency of arginine vasopressin (AVP). More than 50 mutations causing adFNDI have been already reported in the AVP gene. The aim of the present study is to analyze the AVP gene in four generations of one Brazilian kindred with adFNDI. The proband was a 31-year old female with huge hypotonic polyuria (10 L/day) dated from childhood. Molecular analysis included amplification of all exons and exon-intron regions of the AVP gene by PCR and direct sequencing. Sequencing analysis showed a novel point mutation in heterozygous: G88V (GGC>GTC). All affected patients presented the same mutation also in heterozygous, while it was absent in four normal members. We expand the repertoire of mutations in AVP describing the novel G88V mutation in one Brazilian kindred with adFNDI.
authors.affiliation: Hospital das Clínicas, Universidade de São Paulo, SP, Brasil. medna@usp.br
authors.forename: Maria Edna de
authors.initials: ME
authors.lastname: Melo
authors.forename: Suemi
authors.initials: S
authors.lastname: Marui
authors.forename: Vinícius Nahime de
authors.initials: VN
authors.lastname: Brito
authors.forename: Marcio Corrêa
authors.initials: MC
authors.lastname: Mancini
authors.forename: Berenice B
authors.initials: BB
authors.lastname: Mendonca
authors.forename: Mirta
authors.initials: M
authors.lastname: Knoepfelmacher
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001127:Arginine Vasopressin / Q000235:genetics*; D001938:Brazil; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D020790:Diabetes Insipidus, Neurogenic / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D055815:Young Adult
chemical_list: D001127:Arginine Vasopressin