title: Rhnull syndrome: identification of a novel mutation in RHce.
abstract: BACKGROUND
  The deficiency of Rh proteins on red blood cells (RBCs) from individuals of the Rh(null) amorph type are the result of homozygosity for a silent RHCE in cis with a deleted RHD. A novel mutation in RHce was identified in two Caucasian Brazilian girls with the amorph type of Rh(null) who were born to parents who were first cousins.
  
  
  METHODS
  RBCs from the Rh(null) sisters and from family members were analyzed by serology and flow cytometry with specific antibodies. Genomic DNA and transcripts were tested by polymerase chain reaction and sequence analysis.
  
  
  RESULTS
  Rh(null) RBCs were nonreactive with anti-Rh and anti-LW. Molecular analyses showed a deletion of RHD and of one nucleotide (960/963; GGGG-->GGG) in exon 7 of the RHce. This deletion introduced a frameshift after Gly321, a new C-terminal sequence, and a premature stop codon, resulting in a shorter predicted protein with 357 amino acids.
  
  
  CONCLUSIONS
  The detection of a unique RHce transcript indicated that the two sisters were homozygous, whereas the other family members were heterozygous for the mutation. A novel mutation resulting in the amorph Rh(null) with loss of Rh antigen expression is described.
authors.affiliation: Hemocentro Unicamp, Campinas, SP, Brazil.
authors.forename: K A
authors.initials: KA
authors.lastname: Rosa
authors.forename: M E
authors.initials: ME
authors.lastname: Reid
authors.forename: C
authors.initials: C
authors.lastname: Lomas-Francis
authors.forename: V I
authors.initials: VI
authors.lastname: Powell
authors.forename: F F
authors.initials: FF
authors.lastname: Costa
authors.forename: S T
authors.initials: ST
authors.lastname: Stinghen
authors.forename: A M
authors.initials: AM
authors.lastname: Watanabe
authors.forename: E K
authors.initials: EK
authors.lastname: Carboni
authors.forename: J P
authors.initials: JP
authors.lastname: Baldon
authors.forename: M M F
authors.initials: MM
authors.lastname: Jucksch
authors.forename: L
authors.initials: L
authors.lastname: Castilho
mesh_terms: D000328:Adult; D001483:Base Sequence; D018388:Codon, Terminator; D004912:Erythrocytes / Q000276:immunology / Q000378:metabolism; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D006147:Guanine; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012204:Rh-Hr Blood-Group System / Q000097:blood / Q000235:genetics*; D013577:Syndrome; D014158:Transcription, Genetic
chemical_list: D018388:Codon, Terminator; C066468:RHCE protein, human; D012204:Rh-Hr Blood-Group System; C026410:Rho(D) antigen; D006147:Guanine