title: PTPRF is disrupted in a patient with syndromic amastia.
abstract: BACKGROUND
  The presence of mammary glands distinguishes mammals from other organisms. Despite significant advances in defining the signaling pathways responsible for mammary gland development in mice, our understanding of human mammary gland development remains rudimentary. Here, we identified a woman with bilateral amastia, ectodermal dysplasia and unilateral renal agenesis. She was found to have a chromosomal balanced translocation, 46,XX,t(1;20)(p34.1;q13.13). In addition to characterization of her clinical and cytogenetic features, we successfully identified the interrupted gene and studied its consequences.
  
  
  METHODS
  Characterization of the breakpoints was performed by molecular cytogenetic techniques. The interrupted gene was further analyzed using quantitative real-time PCR and western blotting. Mutation analysis and high-density SNP array were carried out in order to find a pathogenic mutation. Allele segregations were obtained by haplotype analysis.
  
  
  RESULTS
  We enabled to identify its breakpoint on chromosome 1 interrupting the protein tyrosine receptor type F gene (PTPRF). While the patient's mother and sisters also harbored the translocated chromosome, their non-translocated chromosomes 1 were different from that of the patient. Although a definite pathogenic mutation on the paternal allele could not be identified, PTPRF's RNA and protein of the patient were significantly less than those of her unaffected family members.
  
  
  CONCLUSIONS
  Although ptprf has been shown to involve in murine mammary gland development, no evidence has incorporated PTPRF in human organ development. We, for the first time, demonstrated the possible association of PTPRF with syndromic amastia, making it a prime candidate to investigate for its spatial and temporal roles in human breast development.
authors: Interdepartment of Biomedical Sciences, Faculty of Graduate School, Chulalongkorn University, Bangkok 10330, Thailand.
authors: Surasawadee
authors: S
authors: Ausavarat
authors: Siraprapa
authors: S
authors: Tongkobpetch
authors: Verayuth
authors: V
authors: Praphanphoj
authors: Charan
authors: C
authors: Mahatumarat
authors: Nond
authors: N
authors: Rojvachiranonda
authors: Thiti
authors: T
authors: Snabboon
authors: Thomas C
authors: TC
authors: Markello
authors: William A
authors: WA
authors: Gahl
authors: Kanya
authors: K
authors: Suphapeetiporn
authors: Vorasuk
authors: V
authors: Shotelersuk
mesh_terms: D000293:Adolescent; D000818:Animals; D001940:Breast / Q000002:abnormalities* / Q000254:growth & development; D000013:Congenital Abnormalities / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D007674:Kidney Diseases / Q000151:congenital; D051379:Mice; D054623:Receptor-Like Protein Tyrosine Phosphatases, Class 2 / Q000235:genetics*; D013577:Syndrome; D014178:Translocation, Genetic
chemical_list: D054623:Receptor-Like Protein Tyrosine Phosphatases, Class 2