Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Multiple SLC26A2 mutations occurring in a three-generational family.

Ana Coral Barreda-Bonis1, Jimena Barraza-García2, Manuel Parrón3

  • 1Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain; Dept. of Paediatric Endocrinology, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Spain.

European Journal of Medical Genetics
|October 13, 2017
PubMed
Summary

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Update and review of treatment in achondroplasia.

Anales de pediatria·2026
Same author

Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type.

European journal of human genetics : EJHG·2026
Same author

Multiexon COL1A2 deletion as a rare mechanism in osteogenesis imperfecta: Case report and literature review.

Bone·2026
Same author

International guideline on genetic testing of children with short stature.

European journal of endocrinology·2026
Same author

<i>CRTAP</i>-Related Osteogenesis Imperfecta: Clinical Variability and a Potential Founder Variant in <i>CRTAP</i>.

Molecular syndromology·2025
Same author

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Clinical genetics·2025

Multiple epiphyseal dysplasias (MED) can be caused by SLC26A2 gene mutations. This study identified a novel mutation in a family with MED and atypical skeletal features, expanding our understanding of this genetic disorder.

Area of Science:

  • Genetics
  • Orthopedics
  • Molecular Biology

Background:

  • Multiple epiphyseal dysplasias (MED) are a group of skeletal dysplasias characterized by short stature, joint pain, and early-onset osteoarthritis.
  • Mutations in the COMP gene are responsible for about half of autosomal dominant MED cases.
  • Mutations in the SLC26A2 gene account for approximately 25% of recessive cases in Caucasians.

Observation:

  • A family initially suspected of having autosomal dominant skeletal dysplasia was investigated.
  • The proband was found to be a compound heterozygote for two SLC26A2 mutations: a novel p.Ser522Phe and the common p.Arg279Trp.
  • The proband exhibited classical MED features along with bilateral synostoses between the 2nd and 3rd metatarsals, an atypical presentation.

Findings:

Keywords:
ClubfootDTDSTRecessive multiple epiphyseal dysplasiaSLC26A2

Related Experiment Videos

  • Genetic analysis revealed compound heterozygosity for SLC26A2 mutations in the proband.
  • The proband's parents were heterozygous for the identified SLC26A2 mutations.
  • The maternal grandfather, diagnosed with MED, was homozygous for the common SLC26A2 mutation (p.Arg279Trp).

    • Implications:

    • This case expands the known spectrum of SLC26A2 mutations and their associated phenotypes in multiple epiphyseal dysplasias.
    • The identification of a novel mutation highlights the importance of comprehensive genetic testing for skeletal dysplasias.
    • Understanding these genetic underpinnings can aid in diagnosis, genetic counseling, and potential therapeutic strategies for MED patients.