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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.

Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree