| Title |
Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus
|
|---|---|
| Published in |
European Journal of Pediatrics, March 2018
|
| DOI | 10.1007/s00431-018-3132-z |
| Pubmed ID | |
| Authors |
Shivani Joshi, Helene Kvistgaard, Konstantinos Kamperis, Mia Færch, Søren Hagstrøm, Niels Gregersen, Søren Rittig, Jane Hvarregaard Christensen |
| Abstract |
Congenital nephrogenic diabetes insipidus (CNDI) is characterized by the reduced ability of renal collecting duct cells to reabsorb water in response to the antidiuretic effect of vasopressin. Chronic polyuria and polydipsia are the hallmarks of the disease. Approximately 90% of all patients with CNDI have X-linked inherited disease caused by variants in the arginine vasopressin receptor 2 (AVPR2) gene. We present genetic findings in 34 individuals from 19 kindreds including one or more family members with CNDI. Coding regions of AVPR2 were sequenced bi-directionally. We identified eight novel disease-causing variants in AVPR2, p.Arg68Alafs*124, p.Ser171Arg, p.Gln174Pro, p.Trp200Arg, p.Gly201Cys, p.Gly220Arg, p.Val226Glu, and p.Gln291Pro in nine kindreds. In all three families with more than one affected individual, the novel variants segregated with the disease. We also identified eight recurrent disease-causing variants, p.Val88Met, p.Leu111Valfs*80, p.Arg113Trp, p.Tyr124*, p.Ser167Leu, p.Thr207Asn, p.Arg247Alafs*12, and p.Arg337* in ten kindreds. Our findings contribute to the growing list of AVPR2 variants causing X-linked CNDI. Being a rapid diagnostic tool for CNDI, direct sequencing of AVPR2 should be encouraged in newborns with familial predisposition to CNDI. What is Known: • Disease-causing variants in AVPR2 cause X-linked congenital nephrogenic diabetes insipidus (CNDI). • DNA sequencing of AVPR2 is rapid, facilitates differential diagnosis, early intervention, and genetic diagnosis thus reducing morbidity in CNDI. What is New: • We identified eight novel disease-causing variants in AVPR2: p.Arg68Alafs*124, p.Ser171Arg, p.Gln174Pro, p.Trp200Arg, p.Gly201Cys, p.Gly220Arg, p.Val226Glu, and p.Gln291Pro, thereby adding to the growing list of AVPR2 disease-causing variants and emphasizing the importance of genetic testing in CNDI. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Netherlands | 1 | 20% |
| Spain | 1 | 20% |
| Unknown | 3 | 60% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Science communicators (journalists, bloggers, editors) | 2 | 40% |
| Members of the public | 2 | 40% |
| Practitioners (doctors, other healthcare professionals) | 1 | 20% |
Mendeley readers
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 17 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 3 | 18% |
| Student > Doctoral Student | 1 | 6% |
| Student > Bachelor | 1 | 6% |
| Student > Ph. D. Student | 1 | 6% |
| Student > Master | 1 | 6% |
| Other | 1 | 6% |
| Unknown | 9 | 53% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 2 | 12% |
| Biochemistry, Genetics and Molecular Biology | 2 | 12% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 6% |
| Computer Science | 1 | 6% |
| Nursing and Health Professions | 1 | 6% |
| Other | 0 | 0% |
| Unknown | 10 | 59% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 16 August 2018.
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#14,096,200
of 23,031,582 outputs
Outputs from European Journal of Pediatrics
#2,502
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#180,534
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Outputs of similar age from European Journal of Pediatrics
#47
of 53 outputs
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