Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

Eur J Hum Genet. 2011 Nov;19(11):1133-7. doi: 10.1038/ejhg.2011.101. Epub 2011 Jun 8.


We report on three hydropic fetuses of 17, 22 and 25 gestational weeks from three distinct families presenting with Desbuquois dysplasia type 1. All fetuses showed brachymelia and characteristic dysmorphic features. X-ray studies revealed δ-shaped extraphalangeal bones and disease-specific prominence of the lesser trochanter, varying in severity with fetal age. Early lethal manifestation of the disorder was reflected in lung hypoplasia and in early death of similarly affected siblings in cases 1 and 2. All families were German Caucasians by descent. Sequence analysis of the CANT1 gene revealed two frameshift mutations, c.228_229insC and c.277_278delCT, in homozygous and compound heterozygous configuration, respectively, and a homozygously novel missense mutation, c.336C>A (p.D112E), located within a highly conserved region of exon 2. Haplotype analyses by high-resolution single-nucleotide polymorphism array showed that the haplotype associated with c.228_229insC may be traced to a single founder in the German population.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Autopsy
  • Consanguinity
  • Craniofacial Abnormalities / diagnostic imaging
  • Craniofacial Abnormalities / genetics*
  • Dwarfism / diagnostic imaging
  • Dwarfism / genetics*
  • Ellis-Van Creveld Syndrome / diagnosis
  • Fatal Outcome
  • Female
  • Founder Effect
  • Haplotypes
  • Humans
  • Hydrops Fetalis / diagnostic imaging
  • Hydrops Fetalis / genetics*
  • Infant
  • Infant, Newborn
  • Joint Instability / diagnostic imaging
  • Joint Instability / genetics*
  • Male
  • Mutation*
  • Nucleotidases / genetics*
  • Ossification, Heterotopic / diagnostic imaging
  • Ossification, Heterotopic / genetics*
  • Phenotype
  • Polydactyly / diagnostic imaging
  • Polydactyly / genetics*
  • Polymorphism, Single Nucleotide
  • Radiography


  • CANT1 protein, human
  • Nucleotidases

Supplementary concepts

  • Desbuquois syndrome