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Updated: Jul 27, 2025

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Case report: A novel

Cong Zhou1,2, Hongmei Zhu1,2, Qinqin Xiang1,2

  • 1Department of Medical Genetics, Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China.

Frontiers in Neuroscience
|June 5, 2023
PubMed

Insights

Intellectual developmental disorder 7, or DYRK1A syndrome, is linked to pathogenic variants in the DYRK1A gene. This study identified a novel de novo deletion in a Chinese girl, aiding in molecular diagnosis.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • DYRK1A syndrome (Intellectual developmental disorder 7) is an autosomal dominant disorder.
  • Key features include intellectual disability, microcephaly, and developmental delays.
  • This study focuses on identifying pathogenic variants in a Chinese pediatric case.

Observation:

  • A 6-year-old girl presented with developmental delay, seizures, autistic behavior, and impaired social interaction.
  • Physical findings included microcephaly, esotropia, and abnormal gait.
  • Whole-exome sequencing revealed a de novo heterozygous deletion in the DYRK1A gene.

Findings:

  • A 9,424 bp deletion in DYRK1A (exons 10-12) was identified as pathogenic.
  • The variant was classified according to ACMGG criteria.
  • This finding expands the known spectrum of DYRK1A pathogenic variants.

Implications:

  • This case contributes to the understanding of DYRK1A gene mutations.
  • Provides crucial data for the molecular diagnosis of DYRK1A syndrome.
  • Highlights the importance of genetic sequencing in diagnosing complex developmental disorders.
Abstract

Keywords:
DYRK1Adeletion mutationintellectual developmental disorder 7microcephalywhole-exome sequencing

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