PTPRF is disrupted in a patient with syndromic amastia

BMC Medical Genetics

Research Article

Verayuth Praphanphoj¹  Kanya Suphapeetiporn²  Vorasuk Shotelersuk²  Siraprapa Tongkobpetch²  Thiti Snabboon³  Nond Rojvachiranonda⁴  Charan Mahatumarat⁴  Surasawadee Ausavarat⁵  William A Gahl⁶  Thomas C Markello⁶ 

[1] Center for Medical Genetics Research, Rajanukul Institute, 10400, Bangkok, Thailand;Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, 10330, Bangkok, Thailand;Molecular Genetics Diagnostic Center, King Chulalongkorn Memorial Hospital, Thai Red Cross, 10330, Bangkok, Thailand;Department of Internal Medicine, Faculty of Medicine, Chulalongkorn University, 10330, Bangkok, Thailand;Department of Surgery, Faculty of Medicine, Chulalongkorn University, 10330, Bangkok, Thailand;Interdepartment of Biomedical Sciences, Faculty of Graduate School, Chulalongkorn University, 10330, Bangkok, Thailand;Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, 10330, Bangkok, Thailand;Molecular Genetics Diagnostic Center, King Chulalongkorn Memorial Hospital, Thai Red Cross, 10330, Bangkok, Thailand;Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 20892, Bethesda, Maryland, USA;

关键词: amastia;    athelia;    development of breasts and nipples;    ectodermal dysplasia;    renal agenesis;    balanced chromosome translocation;    PTPRF;    LAR;   

DOI  :  10.1186/1471-2350-12-46

 received in 2010-07-12, accepted in 2011-03-31,  发布年份 2011

来源: Springer

【 摘 要 】

BackgroundThe 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.MethodsCharacterization 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.ResultsWe 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.ConclusionsAlthough 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.

【 授权许可】

Unknown   
© Ausavarat et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.