PMID- 10487710
OWN - NLM
STAT- MEDLINE
DCOM- 19991006
LR  - 20171116
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 84
IP  - 9
DP  - 1999 Sep
TI  - Molecular analysis in familial neurohypophyseal diabetes insipidus: early
      diagnosis of an asymptomatic carrier.
PG  - 3351-4
AB  - Familial neurohypophyseal diabetes insipidus (FNDI) is an inherited deficiency of
      the hormone arginine vasopressin (AVP) and is transmitted as an autosomal
      dominant trait. In the present study we have analyzed the AVP-neurophysin II
      (AVP-NPII) gene in a Spanish kindred. Studies were performed on seven members
      (four clinically affected) of the family. Patients were diagnosed at the Hospital
      Universitario Gregorio Maranon (Madrid, Spain). The entire coding region of the
      AVP-NPII gene of all family members was amplified by PCR and sequenced. All
      affected individuals presented a missense mutation (G1757-->A) that replaces
      glycine at position 23 with arginine within the NPII domain. The substitution was
      confirmed by restriction endonuclease analysis and was present in heterozygosis. 
      Additionally, one of the asymptomatic relatives (a girl 8 months old at the time 
      of study) was identified as carrier of the same mutation and developed the
      disease 3 months later. The alteration found in the second exon of the gene in
      this family seems to be responsible for the disease, as all individuals harboring
      the mutation had been previously diagnosed or have eventually developed FNDI.
      Identification of the molecular defect underlying FNDI in affected families is a 
      powerful tool for early asymptomatic diagnosis in infants.
FAU - Calvo, B
AU  - Calvo B
AD  - Department of Endocrinology, Hospital de Cruces, Barakaldo, Basque Country,
      Spain.
FAU - Bilbao, J R
AU  - Bilbao JR
FAU - Rodriguez, A
AU  - Rodriguez A
FAU - Rodriguez-Arnao, M D
AU  - Rodriguez-Arnao MD
FAU - Castano, L
AU  - Castano L
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - 0 (Neurophysins)
RN  - 113-79-1 (Arginine Vasopressin)
RN  - EC 3.1.21.4 (Deoxyribonucleases, Type II Site-Specific)
RN  - EC 3.1.21.4 (GGGCCC-specific type II deoxyribonucleases)
SB  - IM
MH  - Arginine Vasopressin/*deficiency/genetics
MH  - Child
MH  - Child, Preschool
MH  - Deoxyribonucleases, Type II Site-Specific/metabolism
MH  - Diabetes Insipidus/*diagnosis/*genetics
MH  - Female
MH  - *Genetic Carrier Screening
MH  - Humans
MH  - Infant
MH  - *Mutation, Missense
MH  - Neurophysins/genetics
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - Sequence Analysis, DNA
EDAT- 1999/09/16 00:00
MHDA- 1999/09/16 00:01
CRDT- 1999/09/16 00:00
PHST- 1999/09/16 00:00 [pubmed]
PHST- 1999/09/16 00:01 [medline]
PHST- 1999/09/16 00:00 [entrez]
AID - 10.1210/jcem.84.9.5979 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 1999 Sep;84(9):3351-4. doi: 10.1210/jcem.84.9.5979.