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Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree.
BMC Nephrol. 2018 02 02; 19(1):26.BN

Abstract

BACKGROUND

It has been reported that mutations in arginine vasopressin type 2 receptor (AVPR2) cause congenital X-linked nephrogenic diabetes insipidus (NDI). However, only a few cases of AVPR2 deletion have been documented in China.

METHODS

An NDI pedigree was included in this study, including the proband and his mother. All NDI patients had polyuria, polydipsia, and growth retardation. PCR mapping, long range PCR and sanger sequencing were used to identify genetic causes of NDI.

RESULTS

A novel 22,110 bp deletion comprising AVPR2 and ARH4GAP4 genes was identified by PCR mapping, long range PCR and sanger sequencing. The deletion happened perhaps due to the 4-bp homologous sequence (TTTT) at the junctions of both 5' and 3' breakpoints. The gross deletion co-segregates with NDI. After analyzing available data of putative clinical signs of AVPR2 and ARH4GAP4 deletion, we reconsider the potential role of AVPR2 deletion in short stature.

CONCLUSIONS

We identified a novel 22.1-kb deletion leading to X-linked NDI in a Chinese pedigree, which would increase the current knowledge in AVPR2 mutation.

Authors+Show Affiliations

Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, 1 Jianshe Road East, Zhengzhou, Henan, 450052, China.Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, 1 Jianshe Road East, Zhengzhou, Henan, 450052, China. chen.yibing@qq.com.Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, 1 Jianshe Road East, Zhengzhou, Henan, 450052, China. kongxd@263.net.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

29394883

Citation

Bai, Ying, et al. "Contiguous 22.1-kb Deletion Embracing AVPR2 and ARHGAP4 Genes at Novel Breakpoints Leads to Nephrogenic Diabetes Insipidus in a Chinese Pedigree." BMC Nephrology, vol. 19, no. 1, 2018, p. 26.
Bai Y, Chen Y, Kong X. Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree. BMC Nephrol. 2018;19(1):26.
Bai, Y., Chen, Y., & Kong, X. (2018). Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree. BMC Nephrology, 19(1), 26. https://doi.org/10.1186/s12882-018-0825-5
Bai Y, Chen Y, Kong X. Contiguous 22.1-kb Deletion Embracing AVPR2 and ARHGAP4 Genes at Novel Breakpoints Leads to Nephrogenic Diabetes Insipidus in a Chinese Pedigree. BMC Nephrol. 2018 02 2;19(1):26. PubMed PMID: 29394883.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree. AU - Bai,Ying, AU - Chen,Yibing, AU - Kong,Xiangdong, Y1 - 2018/02/02/ PY - 2017/03/28/received PY - 2018/01/21/accepted PY - 2018/2/4/entrez PY - 2018/2/6/pubmed PY - 2018/8/28/medline KW - AVPR2 KW - Deletion KW - Genetic diagnosis KW - Nephrogenic diabetes insipidus SP - 26 EP - 26 JF - BMC nephrology JO - BMC Nephrol VL - 19 IS - 1 N2 - BACKGROUND: It has been reported that mutations in arginine vasopressin type 2 receptor (AVPR2) cause congenital X-linked nephrogenic diabetes insipidus (NDI). However, only a few cases of AVPR2 deletion have been documented in China. METHODS: An NDI pedigree was included in this study, including the proband and his mother. All NDI patients had polyuria, polydipsia, and growth retardation. PCR mapping, long range PCR and sanger sequencing were used to identify genetic causes of NDI. RESULTS: A novel 22,110 bp deletion comprising AVPR2 and ARH4GAP4 genes was identified by PCR mapping, long range PCR and sanger sequencing. The deletion happened perhaps due to the 4-bp homologous sequence (TTTT) at the junctions of both 5' and 3' breakpoints. The gross deletion co-segregates with NDI. After analyzing available data of putative clinical signs of AVPR2 and ARH4GAP4 deletion, we reconsider the potential role of AVPR2 deletion in short stature. CONCLUSIONS: We identified a novel 22.1-kb deletion leading to X-linked NDI in a Chinese pedigree, which would increase the current knowledge in AVPR2 mutation. SN - 1471-2369 UR - https://www.unboundmedicine.com/medline/citation/29394883/Contiguous_22_1_kb_deletion_embracing_AVPR2_and_ARHGAP4_genes_at_novel_breakpoints_leads_to_nephrogenic_diabetes_insipidus_in_a_Chinese_pedigree_ L2 - https://www.biomedcentral.com/1471-2369/19/26 DB - PRIME DP - Unbound Medicine ER -