Donohue syndrome caused by mutation of insulin receptor gene: a case report / 中华围产医学杂志

ABSTRACT

This article reported the comprehensive management and short-term follow-up of a neonate diagnosed with Donohue syndrome. The affected male neonate presented with obvious insulin resistance (uncontrollable hyperglycemia) and unusual facies (more hair and dense, wide eye distance, large ears, etc.). Whole exome sequencing revealed a compound heterozygous variant in the insulin receptor gene [c.3258+4A>G in intron 17 and c.1321T>A (p.W441R) in exon 6], and Sanger sequencing confirmed that the mutation was inherited from both parents, which is likely pathogenic mutation. Based on the genetic test results and clinical manifestation, the neonate had a high probability of being diagnosed with Donohue syndrome. During a follow-up of nine months, the baby showed growth and development retardation, intermittent low-grade fever, and the fasting glucose was around 18 mmol/L.