Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene: A case report
Entity
UAM. Departamento de Medicina; Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ)Publisher
Wiley Open AccessDate
2019Citation
10.1002/mgg3.568
Molecular Genetics & Genomic Medicine 7.4 (2019): e568
ISSN
2324-9269DOI
10.1002/mgg3.568Funded by
This study was supported in part by grants from the Research Activity Intensification Program (Programa Intensificación Actividad Investigadora) (IdiPAZ and Agencia Laín‐Entralgo/CM) to R.P. ISCIII RETIC REDINREN RD16/0009 FEDER FUNDS, and (Programa Intensificación Actividad Investigadora) (IdiPAZ and FIBHULP) to J.N.Editor's Version
https://doi.org/10.1002/mgg3.568Subjects
Aquaporin 2 gene; Compound heterozygous mutation; Exonic deletion; Nephrogenic diabetes insipidus; P. T125M mutation; Polyuria; (SNP) array; MedicinaRights
© 2019 The AuthorsAbstract
Background: Congenital nephrogenic diabetes insipidus (NDI) is a rare condition
characterized by severe polyuria, due to the inability of the kidneys to concentrate
urine in response to arginine vasopressin (AVP). In the majority of the cases, the
disease shows an X‐linked inherited pattern, although an autosomal recessive inheritance
was also observed.
Methods: We report a patient with a severe NDI diagnosed during the neonatal period.
Because the patient was female without a family history of congenital NDI, her
disease was thought to exhibit an autosomal recessive form.
Results: A full mutation analysis of AVP receptor 2 (AVPR2; MIM#300538) gene
showed no mutations. However, direct Sanger sequencing of the aquaporin 2 (AQP2)
revealed an apparently homozygous mutation at nucleotide position
NM_000486.5:c.374C>T (p.Thr125Met) in exon 2. Further customized multiplex
ligation‐dependent probe amplification (MLPA), single‐nucleotide polymorphism
(SNP) array analysis, and long‐range polymerase chain reaction (PCR) followed by
Sanger sequencing showed a heterozygous exonic deletion comprising exons 2, 3,
and partially 4 of AQP2.
Conclusion: This is the first case of a compound heterozygote patient with a missense
mutation involving NM_000486.5:exon2:c.374C>T (p.Thr125Met) and a
gross deletion of at least exons 2, 3, and partially 4 on the AQP2 to present with a
severe NDI phenotype
Files in this item
Google Scholar:Peces, Ramón
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Mena, Rocío
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Peces, Carlos
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Santos‐Simarro, Fernando
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Fernández, Luis
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Afonso, Sara
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Lapunzina, Pablo
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Selgas, Rafael
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Nevado, Julián
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