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http://purl.uniprot.org/citations/34839503http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/34839503http://www.w3.org/2000/01/rdf-schema#comment"

Objective

To explore the clinical characteristics, genetic basis and clinical treatment of seven neonates with congenital nephrogenic diabetes insipidus (NDI).

Methods

Clinical data of the patients were collected. High-throughput sequencing was carried out to detect potential variants. Sanger sequencing was used to verify the results.

Results

The patients were all males, with the age of onset being 10 to 21 days. All patients were admitted to the hospital for intermittent fever as the first symptom during the neonatal period. Additional symptoms had included polydipsia and polyuria. After the treatment, 5 patients had recovered, the remainders still had NDI symptoms and developmental retardation. Five children were found to harbor pathogenic variants of the AVPR2/AQP2 gene, which included one in-frame mutation of c.645_646insGCACCTACCCTGGGTATCGCC, two missense mutations of c.541C>T and c.419C>A, and two hemizygous deletions of the AVPR2/AQP2 gene. Among these, two were unreported previously. Cases 6 and 7 were a pair of twins. Both had carried homozygous missense variants of c.538G>A of the AVPR2/AQP2 gene, which was known to be pathogenic.

Conclusion

AVPR2/AQP2 is the main pathogenic gene for congenital NDI, for which two novel pathogenic variants have been discovered in this study. Above results have provided a basis for clinical diagnosis and genetic counseling for the affected pedigrees."xsd:string
http://purl.uniprot.org/citations/34839503http://purl.org/dc/terms/identifier"doi:10.3760/cma.j.cn511374-20200607-00416"xsd:string
http://purl.uniprot.org/citations/34839503http://purl.uniprot.org/core/author"Dong H."xsd:string
http://purl.uniprot.org/citations/34839503http://purl.uniprot.org/core/author"Dong X."xsd:string
http://purl.uniprot.org/citations/34839503http://purl.uniprot.org/core/author"Kang W."xsd:string
http://purl.uniprot.org/citations/34839503http://purl.uniprot.org/core/author"Lin F."xsd:string
http://purl.uniprot.org/citations/34839503http://purl.uniprot.org/core/author"Xiong H."xsd:string
http://purl.uniprot.org/citations/34839503http://purl.uniprot.org/core/author"Xu B."xsd:string
http://purl.uniprot.org/citations/34839503http://purl.uniprot.org/core/author"Zheng X."xsd:string
http://purl.uniprot.org/citations/34839503http://purl.uniprot.org/core/date"2021"xsd:gYear
http://purl.uniprot.org/citations/34839503http://purl.uniprot.org/core/name"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"xsd:string
http://purl.uniprot.org/citations/34839503http://purl.uniprot.org/core/pages"1185-1189"xsd:string
http://purl.uniprot.org/citations/34839503http://purl.uniprot.org/core/title"[Clinical characteristics and molecular genetics of seven neonates with congenital nephrogenic diabetes insipidus]."xsd:string
http://purl.uniprot.org/citations/34839503http://purl.uniprot.org/core/volume"38"xsd:string
http://purl.uniprot.org/citations/34839503http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/34839503
http://purl.uniprot.org/citations/34839503http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/34839503
http://purl.uniprot.org/uniprot/#_P30518-mappedCitation-34839503http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/34839503
http://purl.uniprot.org/uniprot/P30518http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/34839503