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A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia.

Authors
  • Song, Cui1
  • Li, Niu2
  • Hu, Xuyun3
  • Shi, Yu4
  • Chen, Lili1
  • Zhou, Ting1
  • Xu, Xuejiao1
  • Shen, Jun5
  • Zhu, Min6
  • 1 Department of Endocrinology and Genetic Metabolic Diseases, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, 400014, Chongqing, China. , (China)
  • 2 Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, 200127, Shanghai, China. , (China)
  • 3 Center for Medical Genetics, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, 100045, Beijing, China. , (China)
  • 4 Department of Clinical Laboratory, Children's Hospital of Chongqing Medical University, 400014, Chongqing, China. , (China)
  • 5 Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA. Electronic address: [email protected]
  • 6 Department of Endocrinology and Genetic Metabolic Diseases, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, 400014, Chongqing, China. Electronic address: [email protected] , (China)
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Nov 01, 2019
Volume
62
Issue
11
Pages
103575–103575
Identifiers
DOI: 10.1016/j.ejmg.2018.11.009
PMID: 30439533
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Metaphyseal anadysplasia 1 (MIM# 602111) belongs to a heterogeneous group of skeletal diseases characterized by an autosomal dominant form of growth defects due to metaphyseal changes with epiphyseal involvement similar to other metaphyseal disorders. Matrix metalloproteinase 13 encoded by MMP13 presumably plays important roles in bone formation and growth, and pathogenic variants in MMP13 have been identified to cause metaphyseal anadysplasia 1. Only six pathogenic variants in MMP13 have been previously reported worldwide. The genotype-phenotype correlation of MMP13-related disorders has not been fully understood. Here we reported the identification of a previously unreported pathogenic heterozygous de novo variant NM_002427.3:c.212T > C/p.Met71Thr in MMP13 in a Chinese male pediatric patient with metaphyseal anadysplasia 1 and additional phenotypes, including mild rickets-like changes observed on upper long bone metaphyses and patchy bone defects on the spine vertebrae particularly resolved by childhood. Our findings not only expand genotype and phenotype spectrums of MMP13-related disorders but also offer further information for precise diagnosis and classification of metaphyseal anadysplasia disorders. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

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