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GENATLAS PHENOTYPE
last update : 24-02-2009
Symbol ATSG2
Location 5q33.1
Name atelosteogenesis, type II
Other name(s) neonatal osseous dysplasia I (De La Chapelle type)
Corresponding gene SLC26A2
Other symbol(s) AO2, DLCD
Main clinical features
  • lethal dwarfism, limbs strikingly short, fibula and ulna triangular, middle phalanges curiously double, severe micromelia, small thorax, cleft palate, and bilateral clubfoot;
  • associated to patent foramen ovale and ductus Botalli, endocrine and hematologic abnormalities
    • Genetic determination autosomal recessive
    Related entries Mc Alister dysplasia
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name sulfate transporter (SLC26A2)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     homozygous aminoacid substitutions within extracellular loops or the N or C terminus or compound heterozygosity for a truncating and a mild mutation
    various types   truncated protein a R279W substitution, a deletion of C418 predicting a frameshift and a premature stop codon (leading to reduced mRNA levels)
    Remark(s)
    Genotype/Phenotype correlations compound heterozygote for the recurrent (p.R279W) and (p.G663R) mutations; G663R localized within the cytoplasm, and not to the cell membrane, suggesting loss-of-function mutation, leading to intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia