ArticleExperimental and therapeutic medicine2019
Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel nonsense mutation in AVP-NPII gene.
Article in Experimental and therapeutic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 6 citations in OpenAlex.
- A Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man.AACE clinical case reportsArticle
- Central Diabetes Insipidus in Father and Son Linked to a Rare Variant: A Case Report.Biomedicine hubArticle
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6 authors at 2 institutions in 1 country.
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Abstract
Familial neurohypophyseal diabetes insipidus (FNDI) is a rare single-gene disorder caused by mutations of the arginine vasopressin-neurophysin II (AVP-NPII) gene. These changes impair the release of vasopressin from the posterior pituitary gland. In the present study, the AVP-NPII gene of a Chinese adult patient with central diabetes insipidus, the patient's symptomatic mother and an asymptomatic sister of the patient was sequenced. Examination of the family history revealed cases of FNDI across four generations. Gene sequencing analysis revealed a novel heterozygous mutation, c.268A>T (p.Lys90Ter), in exon 2 of the AVP-NPII gene, in the patient and the patient's mother, which led to the loss of 6 cysteine residues and aberrant disulfide bonds, which is predicted to alter the mature protein structure. The present study identified a novel heterozygous nonsense mutation of the AVP-NPII gene associated with FNDI, which broadens the spectrum of known mutations associated with this disorder and contributes to the understanding of its molecular basis.
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