RUNX2 analysis of Danish cleidocranial dysplasia families

L Hansen; A K Riis; A Silahtaroglu; H Hove; E Lauridsen; H Eiberg; S Kreiborg

doi:10.1111/j.1399-0004.2010.01458.x

RUNX2 analysis of Danish cleidocranial dysplasia families

L Hansen, A K Riis, A Silahtaroglu, H Hove, E Lauridsen, H Eiberg, S Kreiborg

16 Citations (Scopus)

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.

Original language	English
Journal	Clinical Genetics
Volume	79
Issue number	3
Pages (from-to)	254-63
Number of pages	10
ISSN	0009-9163
DOIs	https://doi.org/10.1111/j.1399-0004.2010.01458.x
Publication status	Published - Mar 2011

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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",

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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 - 2011/3

Y1 - 2011/3

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

SN - 0009-9163

VL - 79

SP - 254

EP - 263

JO - Clinical Genetics

JF - Clinical Genetics

IS - 3

ER -

RUNX2 analysis of Danish cleidocranial dysplasia families

Abstract

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