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[Clinical phenotype and genetic analysis of a child with Intellectual developmental disorder and epilepsy due to

Zaoye Xie1, Chengyan Li, Chaohong Chen

  • 1Children's Medical Center, the Affiliated Hospital of Guangdong Medical University, Zhanjiang, Guangdong 524000, China. aodang@21cn.com.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|July 1, 2024
PubMed

Insights

A novel CLTC gene variant was identified in an infant with intellectual developmental disorder and epilepsy. This likely pathogenic variant aids in diagnosing and treating similar pediatric neurological conditions.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Intellectual developmental disorder (IDD) and epilepsy are complex neurological conditions often with an underlying genetic cause.
  • Identifying specific genetic variants is crucial for accurate diagnosis and targeted treatment in affected children.

Purpose of the Study:

  • To investigate the clinical presentation and genetic etiology of a pediatric patient diagnosed with intellectual developmental disorder and epilepsy.
  • To identify and characterize the genetic basis of neurological symptoms in a young infant.

Main Methods:

  • Clinical data collection from a pediatric patient admitted in February 2021.
  • Whole exome sequencing (WES) performed on the patient and parents.
  • Sanger sequencing used to confirm the identified genetic variant.

Main Results:

  • The patient presented with severe developmental delay, seizures, and respiratory issues from the neonatal period.
  • Cerebral MRI showed bilateral cerebellar hypoplasia; EEG revealed abnormal sharp waves.
  • Whole exome sequencing identified a de novo, likely pathogenic missense variant (c.3196G>A; p.Glu1066Lys) in the CLTC gene.

Conclusions:

  • The identified CLTC gene variant (p.Glu1066Lys) is strongly implicated in the patient's intellectual disability and epilepsy.
  • This genetic finding supports the diagnosis and guides potential therapeutic strategies for the child.
Abstract

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