Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus

Human Mutation

Volumn 19, Issue 1, 2002, Pages 23-29

  Demura, Masashi ^a   Takeda, Yoshiyu ^a   Yoneda, Takashi ^a   Furukawa, Kenji ^a   Usukura, Mikiya ^a   Itoh, Yuji ^a   Mabuchi, Hiroshi ^a  

^a KANAZAWA UNIVERSITY   (Japan)

Author keywords

ARHGAP4; AVPR2; Contiguous; Deletion; Immunoglobulin class switch motif; Inversion; Inverted repeats; NDI; Nephrogenic diabetes insipidus; Non homologous recombination; Polymerase alpha arrest site; RhoGAP C1; Slipped mispairing

Indexed keywords

ARGININE VASOPRESSIN RECEPTOR 2; ARGIPRESSIN; ARGIPRESSIN RECEPTOR; GENE PRODUCT; PALINDROMIC DNA; PROTEIN ARHGAP4; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BASE MISPAIRING; CASE REPORT; CLINICAL FEATURE; DNA REPLICATION; GENE DELETION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC RECOMBINATION; HUMAN; JAPAN; MALE; NEPHROGENIC DIABETES INSIPIDUS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN MOTIF; RELATIVE; SEQUENCE ANALYSIS; SYMPTOM;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE COMPOSITION; BASE SEQUENCE; DIABETES INSIPIDUS, NEPHROGENIC; FEMALE; GENE DELETION; GTP-BINDING PROTEINS; GTPASE-ACTIVATING PROTEINS; HUMANS; IMMUNOGLOBULIN CLASS SWITCHING; JAPAN; MALE; MOLECULAR SEQUENCE DATA; NUCLEIC ACID CONFORMATION; PEDIGREE; RECEPTORS, VASOPRESSIN; RHO GTP-BINDING PROTEINS;

EID: 0036135050     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10011     Document Type: Article

References (10)

1. Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus
2. Nature and recurrence of AVPR2 mutations in X linked nephrogenic diabetes insipidus
3. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
4. Molecular aspects of heavy-chain class switching
5. Gene correction in hematopoietic progenitor cells by homologous recombination
6. Analysis of vasopressin receptor type II (V2R) gene in three Japanese pedigrees with congenital nephrogenic diabetes insipidus: Identification of a family with complete deletion of the V2R gene
7. A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection
8. Gene deletions
9. Compound deletion of the rhoGAP C1 and V2 vasopressin receptor genes in a patient with nephrogenic diabetes insipidus
10. An X chromosome-linked gene encoding a protein with characteristics of a rhoGAP predominantly expressed in hematopoietic cells