NDLI: De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Purandare, Smita M. Mendoza-Londono, Roberto Yatsenko, Svetlana A. Napierala, Dobrawa Scott, Daryl A. Sibai, Tarek Casas, Kari Wilson, Patrick Lee, Jiyun Muneer, Razia Leonard, Joe C. Ramji, Faridali G. Lachman, Ralph Li, Shibo Stankiewicz, Pawel Lee, Brendan Mulvihill, John J.
Description	Country affiliation: United States Author Affiliation: Purandare SM ( Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104, USA.)
Abstract	Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia associated with cranial, clavicular, and dental anomalies. It is caused by mutations in the RUNX2 gene, which encodes an osteoblast-specific transcription factor and maps to chromosome 6p21. We report clinical and molecular cytogenetic studies in a patient with clinical features of CCD including wormian bones, delayed fontanel closure, hypoplastic clavicles and pubic rami, and supernumerary dentition. Additional abnormalities of bone growth and connective tissue, including easy bruisability, scarring, bleeding, joint hypermobility, and developmental delay were also observed. Molecular cytogenetic studies identified a de novo apparently balanced three-way translocation 46,XY,t(4;6;21)(p16;p21.1;q21). Further mapping revealed the breakpoint on 6p21 to be approximately 50 kb upstream of exon 1 of the RUNX2 gene, with RUNX2 being intact on the derivative chromosome 6. We hypothesize that the proband's CCD has arisen from disruption of the developmentally regulated gene RUNX2 at the 6p21 breakpoint, due to a position effect mutation which may have altered the expression of the gene. Further studies might unravel a new regulatory element for RUNX2.
File Format	HTM / HTML
ISSN	15524825
e-ISSN	15524833
DOI	10.1002/ajmg.a.31750
Journal	American Journal of Medical Genetics Part A
Issue Number	4
Volume Number	146A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2008-02-15
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Genetics Chromosomes, Human, Pair 21 Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 6 Cleidocranial Dysplasia Genetics Translocation, Genetic Adolescent Cytogenetic Analysis In Situ Hybridization, Fluorescence
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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