Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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The first Korean case of Waardenburg-Shah syndrome with novel endothelin receptor type B mutations

  • Lee, Eun Sun (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine) ;
  • Ko, Jung Min (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine) ;
  • Moon, Jin Su (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine)
  • Received : 2017.12.12
  • Accepted : 2017.12.18
  • Published : 2017.12.31
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Abstract

Waardenburg syndrome (WS) is a rare genetic disorder, including clinical features of pigmentary abnormalities of irides, skin, hair and sensorineural hearing loss and facial dysmorphism. Among the four types, WS type IV (Waardenburg-Shah syndrome) additionally represents Hirschsprung's disease. Mutations in the SOX10, END3, or EDNRB genes are known to cause WS type IV. Here, we report a 6 year-old girl who was diagnosed as WS type IV by typical clinical manifestations, including skin hypopigmentation, heterochromia of both irides, unilateral sensorineural hearing loss, mild developmental delay and Hirschsprung's disease. The diagnosis was confirmed by molecular genetic analysis of EDNRB. Two novel EDNRB mutations were identified, and each mutation was segregated from each of her parents. During the follow-up period, the patient underwent a surgery for spleen torsion and was medically managed due to recurrent enterocolitis. Also, she suffered from impaired immunity including Hirschsprung's associated enterocolitis.

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References

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