Periventricular nodular heterotopia in a child with a mild Mowat-Wilson phenotype caused by a novel missense mutation of ZEB2

• 발행기관: 대한의학유전학회
• 저자명: Young Ok Kim Yun Young Lee Myeong-Kyu Kim Young Jong Woo
• 간행물 정보: 『대한의학유전학회지』제16권 제2호, 71~75쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2019.12.30

영문 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.

목차

Introduction

Case

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키워드

Periventricular nodular heterotopia Zinc finger E-box binding homeobox 2 Seizures Intellectual disability