A Novel Mutation of Gene CBFA1/RUNX2 in Cleidocranial Dysplasia

Giuseppina Campisi, Maria Grazia Lacaita, Maurizio Margaglione, Angela Pia Cazzolla, Stefano Tetè, Filiberto Mastrangelo, Lorenzo Lo Muzio

Risultato della ricerca: Article

18 Citazioni (Scopus)

Abstract

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. The disease gene is CBFA1/RUNX2, which is mapped to chromosome 6p21. Inactivation of the CBFA1/RUNX2 gene by mutations is involved in the skeletal defects that occur in patients with CCD. CBFA1/RUNX2 controls the differentiation of precursor cells into osteoblasts and is essential for membranous as well as endochondral bone formation. In this study of a 14-yr-old boy with typical CCD phenotype, the authors found a novel CBFA1/RUNX2 gene mutation. All of the amplified segments from the patient's CBFA1/RUNX2 gene were identical to those obtained in controls, except for the one spanning the exon 7 and intron/exon boundary regions. Direct sequencing of the PCR product showed a heterozygous T-to-A transition mutation at nucleotide 1182 in exon 7, leading to Y394X mutation. The predicted protein product lacks 128 amino acids, including part of the PST domain. Identification of this novel mutation constitutes a further step in elucidating the pathogenesis of this autosomal disorder.
Lingua originaleEnglish
pagine (da-a)115-120
Numero di pagine6
RivistaAnnals of Clinical and Laboratory Science
Volume37
Stato di pubblicazionePublished - 2007

All Science Journal Classification (ASJC) codes

  • Microbiology
  • Medical Laboratory Technology
  • Clinical Biochemistry
  • Hematology
  • Molecular Biology
  • Immunology
  • Pathology and Forensic Medicine
  • Immunology and Allergy

Cita questo

Campisi, G., Lacaita, M. G., Margaglione, M., Cazzolla, A. P., Tetè, S., Mastrangelo, F., & Lo Muzio, L. (2007). A Novel Mutation of Gene CBFA1/RUNX2 in Cleidocranial Dysplasia. Annals of Clinical and Laboratory Science, 37, 115-120.

A Novel Mutation of Gene CBFA1/RUNX2 in Cleidocranial Dysplasia. / Campisi, Giuseppina; Lacaita, Maria Grazia; Margaglione, Maurizio; Cazzolla, Angela Pia; Tetè, Stefano; Mastrangelo, Filiberto; Lo Muzio, Lorenzo.

In: Annals of Clinical and Laboratory Science, Vol. 37, 2007, pag. 115-120.

Risultato della ricerca: Article

Campisi, G, Lacaita, MG, Margaglione, M, Cazzolla, AP, Tetè, S, Mastrangelo, F & Lo Muzio, L 2007, 'A Novel Mutation of Gene CBFA1/RUNX2 in Cleidocranial Dysplasia', Annals of Clinical and Laboratory Science, vol. 37, pagg. 115-120.
Campisi G, Lacaita MG, Margaglione M, Cazzolla AP, Tetè S, Mastrangelo F e altri. A Novel Mutation of Gene CBFA1/RUNX2 in Cleidocranial Dysplasia. Annals of Clinical and Laboratory Science. 2007;37:115-120.
Campisi, Giuseppina ; Lacaita, Maria Grazia ; Margaglione, Maurizio ; Cazzolla, Angela Pia ; Tetè, Stefano ; Mastrangelo, Filiberto ; Lo Muzio, Lorenzo. / A Novel Mutation of Gene CBFA1/RUNX2 in Cleidocranial Dysplasia. In: Annals of Clinical and Laboratory Science. 2007 ; Vol. 37. pagg. 115-120.
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abstract = "Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. The disease gene is CBFA1/RUNX2, which is mapped to chromosome 6p21. Inactivation of the CBFA1/RUNX2 gene by mutations is involved in the skeletal defects that occur in patients with CCD. CBFA1/RUNX2 controls the differentiation of precursor cells into osteoblasts and is essential for membranous as well as endochondral bone formation. In this study of a 14-yr-old boy with typical CCD phenotype, the authors found a novel CBFA1/RUNX2 gene mutation. All of the amplified segments from the patient's CBFA1/RUNX2 gene were identical to those obtained in controls, except for the one spanning the exon 7 and intron/exon boundary regions. Direct sequencing of the PCR product showed a heterozygous T-to-A transition mutation at nucleotide 1182 in exon 7, leading to Y394X mutation. The predicted protein product lacks 128 amino acids, including part of the PST domain. Identification of this novel mutation constitutes a further step in elucidating the pathogenesis of this autosomal disorder.",
author = "Giuseppina Campisi and Lacaita, {Maria Grazia} and Maurizio Margaglione and Cazzolla, {Angela Pia} and Stefano Tet{\`e} and Filiberto Mastrangelo and {Lo Muzio}, Lorenzo",
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AU - Campisi, Giuseppina

AU - Lacaita, Maria Grazia

AU - Margaglione, Maurizio

AU - Cazzolla, Angela Pia

AU - Tetè, Stefano

AU - Mastrangelo, Filiberto

AU - Lo Muzio, Lorenzo

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N2 - Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. The disease gene is CBFA1/RUNX2, which is mapped to chromosome 6p21. Inactivation of the CBFA1/RUNX2 gene by mutations is involved in the skeletal defects that occur in patients with CCD. CBFA1/RUNX2 controls the differentiation of precursor cells into osteoblasts and is essential for membranous as well as endochondral bone formation. In this study of a 14-yr-old boy with typical CCD phenotype, the authors found a novel CBFA1/RUNX2 gene mutation. All of the amplified segments from the patient's CBFA1/RUNX2 gene were identical to those obtained in controls, except for the one spanning the exon 7 and intron/exon boundary regions. Direct sequencing of the PCR product showed a heterozygous T-to-A transition mutation at nucleotide 1182 in exon 7, leading to Y394X mutation. The predicted protein product lacks 128 amino acids, including part of the PST domain. Identification of this novel mutation constitutes a further step in elucidating the pathogenesis of this autosomal disorder.

AB - Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. The disease gene is CBFA1/RUNX2, which is mapped to chromosome 6p21. Inactivation of the CBFA1/RUNX2 gene by mutations is involved in the skeletal defects that occur in patients with CCD. CBFA1/RUNX2 controls the differentiation of precursor cells into osteoblasts and is essential for membranous as well as endochondral bone formation. In this study of a 14-yr-old boy with typical CCD phenotype, the authors found a novel CBFA1/RUNX2 gene mutation. All of the amplified segments from the patient's CBFA1/RUNX2 gene were identical to those obtained in controls, except for the one spanning the exon 7 and intron/exon boundary regions. Direct sequencing of the PCR product showed a heterozygous T-to-A transition mutation at nucleotide 1182 in exon 7, leading to Y394X mutation. The predicted protein product lacks 128 amino acids, including part of the PST domain. Identification of this novel mutation constitutes a further step in elucidating the pathogenesis of this autosomal disorder.

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