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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Chinese infant with CACNA1C p.C1021R variant expands clinical phenotype of CACNA1C-related disorder

Congshan Jiang1, Yafei Zhou1, Siyu Zhang1

  • 1Shaanxi Institute for Pediatric Diseases, Key Laboratory of Precision Medicine to Pediatric Diseases of Shaanxi Province, Xi'an Children's Hospital, Affiliated Children's Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710003, China.

Molecular Genetics and Metabolism Reports
|July 28, 2026
PubMed

Insights

CACNA1C-related disorder (CRD) is a rare genetic condition. This study expands its known symptoms to include cerebral infarction and combined T-cell and B-cell immunodeficiency, improving diagnosis and management.

Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Medicine

Background:

  • CACNA1C-related disorder (CRD) is a severe, rare multisystem disorder.
  • Diagnostic and management challenges arise from CRD's rarity and variable expressivity.
  • The NM_001129830.1: c.3061T>C (p.Cys1021Arg) variant in the CACNA1C gene is associated with Timothy syndrome (TS) features.

Keywords:
CACNA1C p.Cys1021Arg variantCACNA1C-related disorderCerebral infarctionCombined immunodeficiencyTimothy syndrome

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