Scholarlink

<p>We report a novel variant in the <i>MACF1</i> gene that caused a congenital brain anomaly (lissencephaly, brainstem hypoplasia, and agenesis of the corpus callosum) in a patient with severe neurodevelopmental delay and drug-resistant epilepsy. The patient was nonresponsive, nonverbal, and nonambulatory and experienced daily generalized myoclonic seizures, generalized muscle weakness, dysphagia, and faecal and urinary incontinence. Whole-exome sequencing revealed a missense heterozygous <i>MACF1</i> variant, c.21878A &gt; G (p.Asp7293Gly). The de novo origin of the variant was confirmed by trio Sanger sequencing. The variant was not reported previously in the gnomAD, ExAC, and 1000 Genomes databases. Our report expands the genetic heterogeneity of a rare type of lissencephaly.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

A novel missense heterozygous MACF1 variant in a patient with global developmental delay, lissencephaly and drug-resistant epilepsy

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年2月17日

查看全文
  • Elena O. Belyaeva,
  • Larisa I. Minaycheva,
  • Vera M. Sivokha,
  • Liudmila S. Kraeva,
  • Natalya B. Torkhova,
  • Maria E. Lopatkina,
  • Elizaveta A. Fonova,
  • Aleksei A. Zarubin,
  • Nadezhda P. Babushkina,
  • Igor N. Lebedev

摘要

We report a novel variant in the MACF1 gene that caused a congenital brain anomaly (lissencephaly, brainstem hypoplasia, and agenesis of the corpus callosum) in a patient with severe neurodevelopmental delay and drug-resistant epilepsy. The patient was nonresponsive, nonverbal, and nonambulatory and experienced daily generalized myoclonic seizures, generalized muscle weakness, dysphagia, and faecal and urinary incontinence. Whole-exome sequencing revealed a missense heterozygous MACF1 variant, c.21878A > G (p.Asp7293Gly). The de novo origin of the variant was confirmed by trio Sanger sequencing. The variant was not reported previously in the gnomAD, ExAC, and 1000 Genomes databases. Our report expands the genetic heterogeneity of a rare type of lissencephaly.