Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M)

Liza Das; Vandana Dhiman; Wim Van Hul; Anil Bhansali; Yashpal Gogate; Ellen Steenackers; Geert Mortier; Sanjay Kumar Bhadada

Bone Reports (Jun 2020)

Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M)

Liza Das,
Vandana Dhiman,
Wim Van Hul,
Anil Bhansali,
Yashpal Gogate,
Ellen Steenackers,
Geert Mortier,
Sanjay Kumar Bhadada

Affiliations

Liza Das: Department of Endocrinology, Post Graduate Institute of Medical Education and Research (PGIMER) Chandigarh, India
Vandana Dhiman: Department of Endocrinology, Post Graduate Institute of Medical Education and Research (PGIMER) Chandigarh, India
Wim Van Hul: Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium
Anil Bhansali: Department of Endocrinology, Post Graduate Institute of Medical Education and Research (PGIMER) Chandigarh, India
Yashpal Gogate: Department of Endocrinology, Post Graduate Institute of Medical Education and Research (PGIMER) Chandigarh, India
Ellen Steenackers: Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium
Geert Mortier: Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium
Sanjay Kumar Bhadada: Department of Endocrinology, Post Graduate Institute of Medical Education and Research (PGIMER) Chandigarh, India; Corresponding author at: Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Journal volume & issue: Vol. 12
p. 100245

Abstract

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Introduction: Spondylo-epi-metaphyseal dysplasia (SEMD) represents a group of osteo-chondrodysplasias characterized by vertebral, epiphyseal as well as metaphyseal abnormalities. Several genes have been identified underlying the different forms. Methodology and results: Two relatives (cousins) in a family were found to have disproportionate short stature with clinical and radiological features suggestive of SEMD. Metabolic bone profile was normal including parathyroid hormone and 25(OH)vitamin D3. Exome sequencing revealed a missense mutation (p. T120M) in the von-Willebrand factor A-domain of the Matrilin 3 (MATN3) gene that segregates with the disease in the family. Conclusion: We identified a homozygous missense mutation in MATN3, an important structural component of the extracellular matrix of cartilage, as the genetic cause of SEMD in this pedigree. MATN3 mutations have been more commonly associated with multiple epiphyseal dysplasia than SEMD. Recognition of this mutation will aid in enhancing the understanding and expanding the spectrum of this particular skeletal dysplasia.

Published in Bone Reports

ISSN: 2352-1872 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the musculoskeletal system
Website: http://www.journals.elsevier.com/bone-reports/

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