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Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidus.
Clin Chim Acta. 2016 Apr 01; 455:84-6.CC

Abstract

BACKGROUND

The diagnosis of cranial and nephrogenic diabetes insipidus (DI) can be clinically challenging. The application of molecular genetic analysis can help in resolving diagnostic difficulties.

CASE

A 3 month-old boy presented with recurrent polyuria was admitted to Intensive Care Unit and was treated as DI. The patient also had a strong family history of polyuria affecting his maternal uncles. Molecular genetic analysis using Single Nucleotide Polymorphism (SNP) array detected a large deletion located at Xq28 region and the breakpoint was identified using PCR and Sanger sequencing. An 11,535 bp novel deletion affecting the entire APVR2 gene and the last intron and exon of the ARHGAP4 gene was confirmed. This large deletion is likely due to the 7-bp microhomology sequence at the junctions of both 5' and 3' breakpoints. No disease-causing mutation was identified for AQP2.

CONCLUSION

We report a novel deletion in a Chinese patient with congenital nephrogenic DI. We suggested that patients with suspected congenital DI should undergo genetic analysis of AVPR2 and AQP2 genes. A definitive diagnosis can benefit patient by treatment of hydrochlorothiazide and amiloride and avoiding unnecessary investigations.

Authors+Show Affiliations

Department of Laboratory Medicine, School of Medicine, Kyung Hee University, Seoul, Republic of Korea.Department of Pathology, The University of Hong Kong, Hong Kong, China.Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, China.Department of Pathology, The University of Hong Kong, Hong Kong, China. Electronic address: ching-wanlam@pathology.hku.hk.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

26828532

Citation

Cho, Sun Young, et al. "Novel Large Deletion in AVPR2 Gene Causing Copy Number Variation in a Patient With X-linked Nephrogenic Diabetes Insipidus." Clinica Chimica Acta; International Journal of Clinical Chemistry, vol. 455, 2016, pp. 84-6.
Cho SY, Law CY, Ng KL, et al. Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidus. Clin Chim Acta. 2016;455:84-6.
Cho, S. Y., Law, C. Y., Ng, K. L., & Lam, C. W. (2016). Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidus. Clinica Chimica Acta; International Journal of Clinical Chemistry, 455, 84-6. https://doi.org/10.1016/j.cca.2016.01.032
Cho SY, et al. Novel Large Deletion in AVPR2 Gene Causing Copy Number Variation in a Patient With X-linked Nephrogenic Diabetes Insipidus. Clin Chim Acta. 2016 Apr 1;455:84-6. PubMed PMID: 26828532.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidus. AU - Cho,Sun Young, AU - Law,Chun Yiu, AU - Ng,Kwok Leung, AU - Lam,Ching Wan, Y1 - 2016/01/29/ PY - 2015/12/17/received PY - 2015/12/29/revised PY - 2016/01/28/accepted PY - 2016/2/2/entrez PY - 2016/2/2/pubmed PY - 2016/12/15/medline KW - AVPR2 KW - Novel deletion KW - X-linked nephrogenic diabetes insipidus SP - 84 EP - 6 JF - Clinica chimica acta; international journal of clinical chemistry JO - Clin. Chim. Acta VL - 455 N2 - BACKGROUND: The diagnosis of cranial and nephrogenic diabetes insipidus (DI) can be clinically challenging. The application of molecular genetic analysis can help in resolving diagnostic difficulties. CASE: A 3 month-old boy presented with recurrent polyuria was admitted to Intensive Care Unit and was treated as DI. The patient also had a strong family history of polyuria affecting his maternal uncles. Molecular genetic analysis using Single Nucleotide Polymorphism (SNP) array detected a large deletion located at Xq28 region and the breakpoint was identified using PCR and Sanger sequencing. An 11,535 bp novel deletion affecting the entire APVR2 gene and the last intron and exon of the ARHGAP4 gene was confirmed. This large deletion is likely due to the 7-bp microhomology sequence at the junctions of both 5' and 3' breakpoints. No disease-causing mutation was identified for AQP2. CONCLUSION: We report a novel deletion in a Chinese patient with congenital nephrogenic DI. We suggested that patients with suspected congenital DI should undergo genetic analysis of AVPR2 and AQP2 genes. A definitive diagnosis can benefit patient by treatment of hydrochlorothiazide and amiloride and avoiding unnecessary investigations. SN - 1873-3492 UR - https://www.unboundmedicine.com/medline/citation/26828532/Novel_large_deletion_in_AVPR2_gene_causing_copy_number_variation_in_a_patient_with_X_linked_nephrogenic_diabetes_insipidus_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0009-8981(16)30039-0 DB - PRIME DP - Unbound Medicine ER -