Journal of Genetic Medicine

  • 제16권2호
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  • Pages.71-75
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  • 2019
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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Periventricular nodular heterotopia in a child with a mild Mowat-Wilson phenotype caused by a novel missense mutation of ZEB2

  • Kim, Young Ok (Department of Pediatrics, Chonnam National University Medical School) ;
  • Lee, Yun Young (Department of Radiology, Chonnam National University Hospital) ;
  • Kim, Myeong-Kyu (Department of Neurology, Chonnam National University Medical School) ;
  • Woo, Young Jong (Department of Pediatrics, Chonnam National University Medical School)
  • 투고 : 2019.09.17
  • 심사 : 2019.11.01
  • 발행 : 2019.12.31
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초록

Periventricular nodular heterotopia (PNH) is a malformation of cortical development in which normal neurons inappropriately cluster in periventricular areas. Patients with Mowat-Wilson syndrome (MWS) typically present with facial gestalt, complex neurologic problems (e.g., severe developmental delay with marked speech impairment and epilepsy), and multiple anomalies (e.g., Hirschsprung disease, urogenital anomalies, congenital heart defects, eye anomalies, and agenesis of the corpus callosum [CC]). MWS is mostly caused by haploinsufficiency of the gene encoding zinc-finger E-box-binding homeobox 2 (ZEB2) due to premature stops or large deletions. We present a case report of a 9-year-old girl with PNH, drug-responsive epilepsy, severe intellectual disability, and facial dysmorphisms only in whom we performed whole-exome sequencing and found a de novo heterozygous missense mutation (c.3134A>C; p.His1045Pro) of ZEB2 (NM_014795.3; NP_055610.1). This mild case of MWS caused by a rare novel missense mutation of ZEB2 represents the first report of MWS with isolated PNH.

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참고문헌

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