Case report: A case of permanent neonatal diabetes mellitus caused by a novel c.71C>A(p.Ala24Asp) variant in the INS gene

  1. Yangna Su
  2. QingTang
  3. Lili Zhao
  4. Yangting Shu
  5. JingZhang
  6. Shuqing Tang
  7. Huimin Wang
  8. YuanXu
  9. Ling Jin
  10. Houdi Zhou
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Abstract

This case report presents a small-for-gestational-age infant whose mother was diagnosed with gestational diabetes during pregnancy. Shortly after birth, the child exhibited symptoms of elevated blood glucose levels and polyuria. Following comprehensive examination and genetic testing, the condition was ultimately identified as permanent neonatal diabetes mellitus type 4, attributed to a novel c.71C > A (p.Ala24Asp) variant in the INS gene. The significance of this case report lies in its rarity, providing valuable insights for further exploration into the pathogenesis of permanent neonatal diabetes.

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  1. Version published to 10.21203/rs.3.rs-8352537/v1 on Research Square