Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, is a rare autosomal recessive disorder of the skeleton characterized by disproportionate short stature with narrow chest and dysmorphic facial features. The skeletal manifestations include platyspondyly, short flared ribs, short tubular bones with abnormal metaphyses and epiphyses, severe brachydactyly, and premature stippled calcifications in the cartilage. The abnormal calcifications are so distinctive as to point to the definitive diagnosis. However, they may be too subtle to attract diagnostic attention in infancy. Homozygous variants in DDR2 cause this disorder. We report on a 5-year-old girl with the classic phenotype of SMED, SL-AC in whom a novel homozygous nonsense mutation in DDR2 was detected using exome sequencing.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/s10038-018-0473-4 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients.
Eur J Med Genet
April 2023
Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Genetic skeletal disorders are clinically and genetically heterogeneous group of disorders that affect the normal development, growth, and maintenance of the human skeleton. Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type (SMED-SL/AC; MIM# 271665) is a rare autosomal recessive genetic skeletal disorder characterized by distinctive facial features, disproportionate short stature, vertebral, metaphyseal, and epiphyseal abnormalities. This unique phenotype is caused by biallelic loss-of-function variants in Discoidin domain receptor 2 gene (DDR2, MIM# 191311).
View Article and Find Full Text PDFControl of craniofacial development by the collagen receptor, discoidin domain receptor 2.
Elife
January 2023
Department of Periodontics & Oral Medicine, University of Michigan School of Dentistry, Ann Arbor, United States.
Development of the craniofacial skeleton requires interactions between progenitor cells and the collagen-rich extracellular matrix (ECM). The mediators of these interactions are not well-defined. Mutations in the discoidin domain receptor 2 gene (), which encodes a non-integrin collagen receptor, are associated with human craniofacial abnormalities, such as midface hypoplasia and open fontanels.
View Article and Find Full Text PDFIdentification of a novel homozygous mutation in the gene from a patient with spondylo-meta-epiphyseal dysplasia by whole exome sequencing.
Iran J Basic Med Sci
February 2021
Ariagene Medical Genetics Laboratory, Mahmoudnejad Ave, Qom, Iran.
Objectives: The spondylo-meta-epiphyseal dysplasia (SMED) short limbs-hand type is a rare autosomal recessive disease, which is characterized by premature calcification leading to severe disproportionate short stature and various skeletal changes. Defective function of a conserved region encoding discoidin domain receptor tyrosine kinase 2 (DDR2 protein) by the discoidin domain-containing receptor 2 ( gene) is cause of this disease. The purpose of present study was to investigate disease-causing mutations on gene in an Iranian family with SMED, and predict the DDR2 protein molecular mechanism in development of SMED.
View Article and Find Full Text PDFThe Role of Discoidin Domain Receptor 2 in Tooth Development.
J Dent Res
February 2020
Departments of Periodontics and Oral Medicine, School of Dentistry, University of Michigan, Ann Arbor, MI, USA.
Collagen signaling is critical for proper bone and tooth formation. Discoidin domain receptor 2 (DDR2) is a collagen-activated tyrosine kinase receptor shown to be essential for skeletal development. Patients with loss of function mutations in develop spondylo-meta-epiphyseal dysplasia (SMED), a rare, autosomal recessive disorder characterized by short stature, short limbs, and craniofacial anomalies.
View Article and Find Full Text PDFReport of a Novel Homozygous Nonsense Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type.
J Pediatr Genet
September 2019
Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type is a rare autosomal recessive disorder causing severe disproportionate short stature along with typical radiological features. We report an adult male patient with typical features and a novel homozygous nonsense mutation c.2422C > T (p.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!