Further evidence of genetic heterogeneity segregating with hereditary gingival fibromatosis

  1. Xiaoqian Ye1,†,
  2. Lisong Shi2,†,
  3. Wei Yin1,†,
  4. Liuyan Meng1,
  5. Qing Kenneth Wang2,3,4,
  6. Zhuan Bian1

Article first published online: 22 JUN 2009

DOI: 10.1111/j.1600-051X.2009.01438.x

Issue

Journal of Clinical Periodontology

Journal of Clinical Periodontology

Volume 36, Issue 8, pages 627–633, August 2009

Additional Information

How to Cite

Ye, X., Shi, L., Yin, W., Meng, L., Wang, Q. K. and Bian, Z. (2009), Further evidence of genetic heterogeneity segregating with hereditary gingival fibromatosis. Journal of Clinical Periodontology, 36: 627–633. doi: 10.1111/j.1600-051X.2009.01438.x

Author Information

  1. 1

    Key Laboratory for Oral Biomedical Engineering of Ministry of Education, Hospital and School of Stomatology, Wuhan University, Wuhan, China

  2. 2

    Key Laboratory of Molecular Biophysics of Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China

  3. 3

    Department of Molecular Cardiology, Center for Cardiovascular Genetics, Lerner Research Institute, Cleveland Clinic, and

  4. 4

    Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH, USA

  1. †

    *Contributed equally to this work.

*Address: Zhuan Bian Key Laboratory for Oral biomedical Engineering of Ministry of Education Hospital and School of Stomatology Wuhan University Luoyu Road 237 Wuhan, 430079 China E-mail: kqyywjtx@public.wh.hb.cn

Publication History

  1. Issue published online: 10 JUL 2009
  2. Article first published online: 22 JUN 2009
  3. Accepted for publication 10 May 2009

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Keywords:

  • genotyping;
  • hereditary gingival fibromatosis (HGF);
  • heterogeneity;
  • linkage analysis;
  • LOD score

Abstract

Aim: To clinically characterize and map the disease-associated locus in a five-generation Chinese family with autosomal dominant early-onset hereditary gingival fibromatosis (HGF).

Material and Methods: A complete oral examination was conducted. Genomic DNA samples were obtained from 14 individuals. Short tandem repeats markers, which encompass four previously known loci related to HGF, were genotyped. Two-point log of the odds (LOD) scores were calculated using MLINK program of the LINKAGE software, multipoint and non-parametric linkage (NPL) analysis were performed using the GENEHUNTER software.

Results: Clinical evaluation and histological examination of this family suggested typical features of HGF. The onset age was early in the generations, ranging between 1 and 2 years. None of the tested markers showed cosegregation among affected individuals. Genotyping data from four putative regions yielded significant negative two-point LOD scores (<−2.0) at θ=0. The maximum multipoint LOD scores and NPL analysis revealed exclusion of these loci as well.

Conclusions: Exclusion of linkage in this family to any of the known HGF loci proved the existence of a novel locus for autosomal dominant HGF and showed that this rare disorder is far more heterogeneous than previously expected.

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