Novel Variant of AVPR2 Giving Rise to X-Linked Congenital Nephrogenic Diabetes Insipidus in a 7-Month-Old Danish Boy
Patients affected with congenital nephrogenic diabetes insipidus (CNDI) have reduced ability to concentrate urine. Early diagnosis of CNDI is important to avoid recurrent episodes of severe dehydration. We present a Danish male suffering from typical symptoms and diagnosed with CNDI at the age of 7...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Karger Publishers
2020-10-01
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| Series: | Case Reports in Nephrology and Dialysis |
| Subjects: | |
| Online Access: | https://www.karger.com/Article/FullText/508786 |
| _version_ | 1818694641661247488 |
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| author | Johanne Emy Sollid Shivani Joshi Malgorzata Pulczynska Wason Søren Rittig Jane Hvarregaard Christensen Konstantinos Kamperis |
| author_facet | Johanne Emy Sollid Shivani Joshi Malgorzata Pulczynska Wason Søren Rittig Jane Hvarregaard Christensen Konstantinos Kamperis |
| author_sort | Johanne Emy Sollid |
| collection | DOAJ |
| description | Patients affected with congenital nephrogenic diabetes insipidus (CNDI) have reduced ability to concentrate urine. Early diagnosis of CNDI is important to avoid recurrent episodes of severe dehydration. We present a Danish male suffering from typical symptoms and diagnosed with CNDI at the age of 7 months. Gene sequencing of this proband and his mother revealed a novel variant in the gene encoding the antidiuretic hormone receptor (AVPR2). The variant is a deletion of nucleotide c.151 in exon 2 of AVPR2 (GenBank NM_000054.4:c.151del). This 1bp deletion is predicted to cause a frameshift that results in tryptophan replacing valine at position 51 in AVPR2 and a premature stop codon three codons downstream (p.Val51Trpfs*3) likely resulting in faulty expression of the receptor. Identification of disease-causing variants such as the one described here contributes to precise diagnosis, especially in carriers and newborns, thus preventing the long-term physical and intellectual disability observed in some CNDI-patients. |
| first_indexed | 2024-12-17T13:32:49Z |
| format | Article |
| id | doaj.art-56769a68d84241aca8154a21195718fe |
| institution | Directory Open Access Journal |
| issn | 2296-9705 |
| language | English |
| last_indexed | 2024-12-17T13:32:49Z |
| publishDate | 2020-10-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Nephrology and Dialysis |
| spelling | doaj.art-56769a68d84241aca8154a21195718fe2022-12-21T21:46:32ZengKarger PublishersCase Reports in Nephrology and Dialysis2296-97052020-10-0110312412910.1159/000508786508786Novel Variant of AVPR2 Giving Rise to X-Linked Congenital Nephrogenic Diabetes Insipidus in a 7-Month-Old Danish BoyJohanne Emy SollidShivani JoshiMalgorzata Pulczynska WasonSøren RittigJane Hvarregaard ChristensenKonstantinos KamperisPatients affected with congenital nephrogenic diabetes insipidus (CNDI) have reduced ability to concentrate urine. Early diagnosis of CNDI is important to avoid recurrent episodes of severe dehydration. We present a Danish male suffering from typical symptoms and diagnosed with CNDI at the age of 7 months. Gene sequencing of this proband and his mother revealed a novel variant in the gene encoding the antidiuretic hormone receptor (AVPR2). The variant is a deletion of nucleotide c.151 in exon 2 of AVPR2 (GenBank NM_000054.4:c.151del). This 1bp deletion is predicted to cause a frameshift that results in tryptophan replacing valine at position 51 in AVPR2 and a premature stop codon three codons downstream (p.Val51Trpfs*3) likely resulting in faulty expression of the receptor. Identification of disease-causing variants such as the one described here contributes to precise diagnosis, especially in carriers and newborns, thus preventing the long-term physical and intellectual disability observed in some CNDI-patients.https://www.karger.com/Article/FullText/508786x-linkedcongenital nephrotic diabetes insipidusantidiuretic hormone receptor 2avpr2genetic testing |
| spellingShingle | Johanne Emy Sollid Shivani Joshi Malgorzata Pulczynska Wason Søren Rittig Jane Hvarregaard Christensen Konstantinos Kamperis Novel Variant of AVPR2 Giving Rise to X-Linked Congenital Nephrogenic Diabetes Insipidus in a 7-Month-Old Danish Boy Case Reports in Nephrology and Dialysis x-linkedcongenital nephrotic diabetes insipidus antidiuretic hormone receptor 2 avpr2 genetic testing |
| title | Novel Variant of AVPR2 Giving Rise to X-Linked Congenital Nephrogenic Diabetes Insipidus in a 7-Month-Old Danish Boy |
| title_full | Novel Variant of AVPR2 Giving Rise to X-Linked Congenital Nephrogenic Diabetes Insipidus in a 7-Month-Old Danish Boy |
| title_fullStr | Novel Variant of AVPR2 Giving Rise to X-Linked Congenital Nephrogenic Diabetes Insipidus in a 7-Month-Old Danish Boy |
| title_full_unstemmed | Novel Variant of AVPR2 Giving Rise to X-Linked Congenital Nephrogenic Diabetes Insipidus in a 7-Month-Old Danish Boy |
| title_short | Novel Variant of AVPR2 Giving Rise to X-Linked Congenital Nephrogenic Diabetes Insipidus in a 7-Month-Old Danish Boy |
| title_sort | novel variant of avpr2 giving rise to x linked congenital nephrogenic diabetes insipidus in a 7 month old danish boy |
| topic | x-linkedcongenital nephrotic diabetes insipidus antidiuretic hormone receptor 2 avpr2 genetic testing |
| url | https://www.karger.com/Article/FullText/508786 |
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