Adams–Oliver syndrome caused by mutations of the EOGT gene

Kim C. Schröder, Duygu Duman, Mustafa Tekin, Denny Schanze, Maja Sukalo, Josephina Meester, Wim Wuyts, Martin Zenker

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Adams–Oliver syndrome (AOS) is a rare congenital disease characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD). It shows significant genetic heterogeneity and can be transmitted by autosomal dominant or recessive inheritance. Recessive inheritance is associated with mutations of DOCK6 or EOGT; however, only few cases have been published so far. We present two families with EOGT-associated AOS. Due to pseudodominance in one family, the recognition of the recessive inheritance pattern was difficult. We identified two novel AOS-causing mutations (c.404G>A/p.Cys135Tyr and c.311+1G>T). The phenotype in the presented families was dominated by large ACC, whereas TTLD were mostly subtle or even absent and no major malformations occured. Our observations along with the previously published cases indicate that the two types of recessive AOS (EOGT- vs. DOCK6-associated) differ significanty regarding the frequency of neurologic or ocular deficits.

Original languageEnglish (US)
Pages (from-to)2246-2251
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Issue number11
StatePublished - Nov 1 2019


  • Adams–Oliver syndrome
  • EOGT
  • aplasia cutis congenita
  • autosomal recessive
  • transversal terminal limb defect

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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