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last update : 28-02-2014
Symbol DTD
Location 5q33.1
Name diastrophic dysplasia
Corresponding gene SLC26A2
Main clinical features
  • Dwarfism, severe talipe equinovarus, hitchhaker thumb, flexion contracture or dislocaton of joints, progressive scoliosis, cleft palate, cystic anthelix.
  • Short tubular bones with abnormal epiphysis, irregular shape of the metacarpals and phalanges, accesory irregular carpal centers and advanced bone age, hypoplasia of the cervical vertebrae, dislocated or double layer patella
  • Genetic determination autosomal recessive
    Related entries including forms mimicking Desbuquois dysplasia
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name sulfate transporter (SLC26A2)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein A715V, C653S, Q454P, R279W mutations, homozygous aminoacid substitutions within extracellular loops or the N or C terminus or compound heterozygosity for a truncating and a mild mutation (heterozygotes for both, a null mutation and a partial-function mutation)
    Remark(s) . the mutations cause undersulfation of glycosaminoglycans in cartilage (PMID: 22566422))
    Genotype/Phenotype correlations Homozygous R279W is associated with mild phenotype often described as EDM4