Donohue syndrome caused by mutation of insulin receptor gene: a case report
10.3760/cma.j.cn113903-20221219-01043
- VernacularTitle:胰岛素受体基因变异引起新生儿矮妖精貌综合征1例
- Author:
Chonghui FEI
1
;
Shenglin YU
Author Information
1. 苏州大学附属儿童医院新生儿科，苏州 215000
- Keywords:
Donohue syndrome;
Insulin resistance;
Receptor, insulin;
Genetic variation;
Infant, newborn
- From:
Chinese Journal of Perinatal Medicine
2023;26(5):423-425
- CountryChina
- Language:Chinese
-
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.
