在中国一个家系中，在新的断点处包含AVPR2和ARHGAP4基因的22.1 kb连续缺失导致肾性尿崩症。
Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree.
作者信息
Bai Ying, Chen Yibing, Kong Xiangdong
机构信息
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, 1 Jianshe Road East, Zhengzhou, Henan, 450052, China.
出版信息
BMC Nephrol. 2018 Feb 2;19(1):26. doi: 10.1186/s12882-018-0825-5.
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.
背景
据报道，精氨酸加压素2型受体（AVPR2）突变会导致先天性X连锁肾性尿崩症（NDI）。然而，在中国仅有少数几例AVPR2缺失的病例被记录。
方法
本研究纳入了一个NDI家系，包括先证者及其母亲。所有NDI患者均有多尿、烦渴和生长发育迟缓的症状。采用PCR定位、长片段PCR和桑格测序法来确定NDI的遗传病因。
结果
通过PCR定位、长片段PCR和桑格测序法，鉴定出一个包含AVPR2和ARH4GAP4基因的22,110 bp的新型缺失。该缺失可能是由于5'和3'断点连接处的4 bp同源序列（TTTT）所致。该大片段缺失与NDI共分离。在分析了AVPR2和ARH4GAP4缺失的假定临床体征的现有数据后，我们重新考虑了AVPR2缺失在身材矮小中的潜在作用。
结论
我们在中国一个家系中鉴定出一个导致X连锁NDI的22.1 kb新型缺失，这将增加目前对AVPR2突变的认识。
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