A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus.

Ito, Masafumi; Mori, Yuichi; Oiso, Yutaka; Saito, Hidehiko

doi:10.1172/jci115052

Cited by 127 publications

(64 citation statements)

References 25 publications

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“…Some technical diffi culties in PCR amplifi cation and direct sequencing of AVP were encountered because this gene is extremely rich in G+C, especially in the last half of the gene where these nucleotides encompass more than 70% of the sequence, as already reported by other researchers (3).…”

Section: Familial Diabetes Insipidus Due To Avp Mutationmentioning

confidence: 81%

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Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family

Melo

Marui

Brito

et al. 2008

Arq Bras Endocrinol Metab

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Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is a rare autosomal dominant disorder characterized by polyuria and polydipsia due to defi ciency 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 amplifi cation 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.

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Section: Familial Diabetes Insipidus Due To Avp Mutationmentioning

confidence: 81%

“…This familial disorder generally occurs some months to years after birth, and ongoing progressive AVP defi ciency has been described (2,3).…”

Section: Introductionmentioning

confidence: 99%

Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family

Melo

Marui

Brito

et al. 2008

Arq Bras Endocrinol Metab

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“…Since the mutation in this gene was first reported in 1991 by Ito et al [3], there have been 46 different mutations identified to date [2,[4][5][6][7][8]. Although the majority of mutations are located in the coding sequence of the signal peptide or the NPII domain [2], 18 different allelic variants are reported [2].…”

Section: Neurohypophyseal Diabetes Insipidus (Ndi) Is Caused By a Defmentioning

confidence: 99%

Novel Mutant Vasopressin-neurophysin II Gene Associated with Familial Neurohypophyseal Diabetes Insipidus

et al. 2004

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Abstract. We describe a novel missense mutant of arginine vasopressin (AVP)-dependent neurohypophyseal diabetes insipidus in an autosomal dominant family. A 54-year-old woman was admitted to our hospital because of thyroidectomy for thyroid cancer. After thyroidectomy she was found to have hypernatremia and polyuria and polydipsia both of which had been present from childhood. She had no obstructive hydronephrosis. Her father, father's younger sister and her third son also had polyuria and polydipsia. Basal plasma AVP concentration at normal plasma osmolality was normal but did not respond to increased plasma osmolality despite hyperosmolality during infusion of hypertonic saline infusion, indicating that plasma AVP secretion was impaired. Sodium concentration in urine and urine osmolality were low and increased after nasal administration of DDAVP. There was a diminished but bright signal of pituitary posterior gland on magnetic resonance T1 weighted image. Molecular genetic analysis demonstrated that the patient and her son had a single heterozygous missense mutation (G®A) at nucleotide 1829 in 1 AVP allele, yielding an abnormal AVP precursor with lacking Glu-47 in its neurophysin II moiety. The abnormal AVP precursor may be related to the impaired AVP secretion.

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“…PCR conditions were: 1-min predenaturation at 96 C; 35 cycles of 1 min at 94 C, annealing for 1 min at 55-58 C, and extension for 1 min at 72 C; and 15-min elongation at 72 C. Buffer conditions have been described previously (18). Direct sequencing was performed in forward and reverse using dRhodamine (PE Applied Biosystems, Foster City, CA) or Thermo Sequenase II (Amersham Pharmacia Biotech Pharmacia, Piscataway, NJ) dye terminator sequencing kits and automated sequencers (Models 373A and 377; PE Applied Biosystems, Foster City, CA).…”

Section: Pcr and Direct Sequencing Of Dax1mentioning

confidence: 99%

Mutational Analysis of DAX1 in Patients with Hypogonadotropic Hypogonadism or Pubertal Delay

Achermann¹

1999

Journal of Clinical Endocrinology & Metabolism

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Although delayed puberty is relatively common and often familial, its molecular and pathophysiologic basis is poorly understood. In contrast, the molecular mechanisms underlying some forms of hypogonadotropic hypogonadism (HH) are clearer, following the description of mutations in the genes KAL, GNRHR, and PROP1. Mutations in another gene, DAX1 (AHC), cause X-linked adrenal hypoplasia congenita and HH. Affected boys usually present with primary adrenal failure in infancy or childhood and HH at the expected time of puberty.DAX1 mutations have also been reported to occur with a wider spectrum of clinical presentations. These cases include female carriers of DAX1 mutations with marked pubertal delay and a male with incomplete HH and mild adrenal insufficiency in adulthood. Given this emerging phenotypic spectrum of clinical presentation in men and women with DAX1 mutations, we hypothesized that DAX1 might be a candidate gene for mutation in patients with idiopathic sporadic or familial HH or constitutional delay of puberty. Direct sequencing of DAX1 was performed in 106 patients, including 85 (80 men and 5 women) with sporadic HH or constitutional delay of puberty and patients from 21 kindreds with familial forms of these disorders. No DAX1 mutations were found in these groups of patients, although silent single nucleotide polymorphisms were identified (T114C, G498A). This study suggests that mutations in DAX1 are unlikely to be a common cause of HH or pubertal delay in the absence of a concomitant history of adrenal insufficiency. (J Clin Endocrinol Metab 84: [4497][4498][4499][4500] 1999) T HE ASSOCIATION of DAX1 (AHC) gene mutations with X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) is well established (OMIM: 300200) (1, 2). More than 50 different mutations in the gene encoding DAX-1 have been reported in this condition (3-6). Affected boys typically present with primary adrenal insufficiency in infancy or childhood. HH usually becomes evident later in life with failure of pubertal development (7,8).DAX-1 is an orphan nuclear hormone receptor that is expressed in the adrenal gland, gonads, hypothalamus, and pituitary gonadotropes (9). The HH caused by DAX1 mutations seems to involve deficits at both hypothalamic and pituitary levels (10 -13). DAX-1 is also expressed in Sertoli cells (14), and male Ahch (Dax1) knockout mice have disordered spermatogenesis and infertility (15). DAX-1 has a crucial role, therefore, in the development and function of the reproductive axis at multiple levels. Different approaches to counseling and treatment are needed for patients with DAX1 mutations compared to those with hypothalamic forms of HH, such as Kallmann syndrome (3,16).Recently, DAX1 gene mutations have been found in several men and women who have less typical reproductive phenotypes. These cases include: 1) partial HH in a man who presented later in life with mild adrenal failure (13); 2) HH, but normal adrenal function, in a woman who is homozygous for a DAX1 mutation thro...

show abstract

A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus.

Cited by 127 publications

References 25 publications

Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family

Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family

Novel Mutant Vasopressin-neurophysin II Gene Associated with Familial Neurohypophyseal Diabetes Insipidus

Mutational Analysis of DAX1 in Patients with Hypogonadotropic Hypogonadism or Pubertal Delay

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