RUNX2 analysis of Danish cleidocranial dysplasia families

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Standard

RUNX2 analysis of Danish cleidocranial dysplasia families. / Hansen, L; Riis, A K; Silahtaroglu, A; Hove, H; Lauridsen, E; Eiberg, H; Kreiborg, S.

I: Clinical Genetics, Bind 79, Nr. 3, 2011, s. 254-63.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Hansen, L, Riis, AK, Silahtaroglu, A, Hove, H, Lauridsen, E, Eiberg, H & Kreiborg, S 2011, 'RUNX2 analysis of Danish cleidocranial dysplasia families', Clinical Genetics, bind 79, nr. 3, s. 254-63. https://doi.org/10.1111/j.1399-0004.2010.01458.x

APA

Hansen, L., Riis, A. K., Silahtaroglu, A., Hove, H., Lauridsen, E., Eiberg, H., & Kreiborg, S. (2011). RUNX2 analysis of Danish cleidocranial dysplasia families. Clinical Genetics, 79(3), 254-63. https://doi.org/10.1111/j.1399-0004.2010.01458.x

Vancouver

Hansen L, Riis AK, Silahtaroglu A, Hove H, Lauridsen E, Eiberg H o.a. RUNX2 analysis of Danish cleidocranial dysplasia families. Clinical Genetics. 2011;79(3):254-63. https://doi.org/10.1111/j.1399-0004.2010.01458.x

Author

Hansen, L ; Riis, A K ; Silahtaroglu, A ; Hove, H ; Lauridsen, E ; Eiberg, H ; Kreiborg, S. / RUNX2 analysis of Danish cleidocranial dysplasia families. I: Clinical Genetics. 2011 ; Bind 79, Nr. 3. s. 254-63.

Bibtex

@article{eff290b1d84c4deaa46dff8bc457eb94,

title = "RUNX2 analysis of Danish cleidocranial dysplasia families",

abstract = "Cleidocranial dysplasia (CCD) is an autosomal dominant inherited disease caused by mutations in the Runt gene RUNX2. Screening of 19 Danish CCD families revealed 16 pathogenic mutations (84%) representing 8 missense mutations, 2 nonsense mutations, 4 frame-shift mutations and 2 large deletions in the RUNX2 locus. Eight mutations were novel, two were found twice, and polymorphisms were found in the promoter region and in the conserved polyglutamine/polyalanine repeat. A large duplication downstream of RUNX2 found in one patient suggests a possible regulatory RUNX2 element. The CCD phenotypes and genotypes adhere to the large phenotypic variability reported in previous CCD studies. Identification of large chromosome aberrations in or near the RUNX2 locus in 3 of the 19 cases suggests copy number analyses to be included in future RUNX2 mutation analyses.",

author = "L Hansen and Riis, {A K} and A Silahtaroglu and H Hove and E Lauridsen and H Eiberg and S Kreiborg",

note = "{\textcopyright} 2010 John Wiley & Sons A/S.",

year = "2011",

doi = "10.1111/j.1399-0004.2010.01458.x",

language = "English",

volume = "79",

pages = "254--63",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell",

number = "3",

}

RIS

TY - JOUR

T1 - RUNX2 analysis of Danish cleidocranial dysplasia families

AU - Hansen, L

AU - Riis, A K

AU - Silahtaroglu, A

AU - Hove, H

AU - Lauridsen, E

AU - Eiberg, H

AU - Kreiborg, S

PY - 2011

Y1 - 2011

N2 - Cleidocranial dysplasia (CCD) is an autosomal dominant inherited disease caused by mutations in the Runt gene RUNX2. Screening of 19 Danish CCD families revealed 16 pathogenic mutations (84%) representing 8 missense mutations, 2 nonsense mutations, 4 frame-shift mutations and 2 large deletions in the RUNX2 locus. Eight mutations were novel, two were found twice, and polymorphisms were found in the promoter region and in the conserved polyglutamine/polyalanine repeat. A large duplication downstream of RUNX2 found in one patient suggests a possible regulatory RUNX2 element. The CCD phenotypes and genotypes adhere to the large phenotypic variability reported in previous CCD studies. Identification of large chromosome aberrations in or near the RUNX2 locus in 3 of the 19 cases suggests copy number analyses to be included in future RUNX2 mutation analyses.

AB - Cleidocranial dysplasia (CCD) is an autosomal dominant inherited disease caused by mutations in the Runt gene RUNX2. Screening of 19 Danish CCD families revealed 16 pathogenic mutations (84%) representing 8 missense mutations, 2 nonsense mutations, 4 frame-shift mutations and 2 large deletions in the RUNX2 locus. Eight mutations were novel, two were found twice, and polymorphisms were found in the promoter region and in the conserved polyglutamine/polyalanine repeat. A large duplication downstream of RUNX2 found in one patient suggests a possible regulatory RUNX2 element. The CCD phenotypes and genotypes adhere to the large phenotypic variability reported in previous CCD studies. Identification of large chromosome aberrations in or near the RUNX2 locus in 3 of the 19 cases suggests copy number analyses to be included in future RUNX2 mutation analyses.

U2 - 10.1111/j.1399-0004.2010.01458.x

DO - 10.1111/j.1399-0004.2010.01458.x

M3 - Journal article

C2 - 20560987

VL - 79

SP - 254

EP - 263

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 3

ER -

ID: 33216584