A novel DLL4 mutation in Adams-Oliver syndrome with absence of the right pulmonary artery in newborn

Am J Med Genet A. 2022 Feb;188(2):658-664. doi: 10.1002/ajmg.a.62562. Epub 2021 Nov 10.

Abstract

Adams-Oliver syndrome (AOS), a rare inherited disorder, is characterized by scalp and terminal limb defects. Several genes associated with Notch pathway mutations have led to AOS. Here, we report a Thai male newborn presenting with aplasia cutis congenita and absence of a right pulmonary artery, which is suggestive of AOS. This was confirmed by the identification of a novel missense mutation in DLL4, a heterozygous one base pair change at nucleotide 82 (c.82G>C, p.Gly28Arg), which is in N-terminal domain. This is the first DLL4-related AOS case with arterial defect.

Keywords: Adams-Oliver syndrome; DLL4; aplasia cutis congenita; arterial defect.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Calcium-Binding Proteins / genetics
  • Ectodermal Dysplasia* / diagnosis
  • Ectodermal Dysplasia* / genetics
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital* / diagnosis
  • Limb Deformities, Congenital* / genetics
  • Male
  • Mutation
  • Pulmonary Artery
  • Scalp
  • Scalp Dermatoses* / congenital
  • Scalp Dermatoses* / diagnosis
  • Scalp Dermatoses* / genetics

Substances

  • Adaptor Proteins, Signal Transducing
  • Calcium-Binding Proteins
  • DLL4 protein, human

Supplementary concepts

  • Adams Oliver syndrome