ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation

Eur J Med Genet. 2024 Dec:72:104978. doi: 10.1016/j.ejmg.2024.104978. Epub 2024 Oct 17.

Abstract

Bohring-Opitz syndrome (BOS) is a rare disease with a characteristic facial appearance and limb position. This report describes a case of BOS complicated by persistent pulmonary hypertension of the newborn (PPHN) and formation of abnormal alveoli that was confirmed by autopsy. A female neonate was born by cesarean section at 37 weeks and 2 days of gestation and found to have a nevus flammeus, exophthalmos, abnormal palate, retraction of the mandible, and a posture characteristic of BOS. The patients had severe PPHN requiring inhalation of nitric oxide. Genetic testing revealed a de novo frameshift variant in ASXL1. Autopsy revealed that the lung was at the saccular stage, equivalent to 28-34 weeks of gestation. This is the first report to present pathological evidence of immaturity of the lung that may be associated with PPHN in a patient with BOS caused by a variant in ASXL1.

Keywords: ASXL1; Bohring-Opitz syndrome; Persistent pulmonary hypertension of the newborn; Respiratory distress syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Craniosynostoses
  • Female
  • Frameshift Mutation
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology
  • Persistent Fetal Circulation Syndrome* / genetics
  • Persistent Fetal Circulation Syndrome* / pathology
  • Pulmonary Alveoli / abnormalities
  • Pulmonary Alveoli / pathology
  • Repressor Proteins* / genetics

Substances

  • ASXL1 protein, human
  • Repressor Proteins

Supplementary concepts

  • Bohring syndrome