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Updated: Jan 22, 2026

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Recurrent Encephalopathy as a Form of Presentation of Transport Protein Particle Complex 11-Related Disease: A Family

Inês Noites1, Catarina Borges2, Sandra Catarina Ferraz3

  • 1Department of Pediatrics, Hospital do Divino Espírito Santo de Ponta Delgada, São Miguel, Azores, Portugal.

Pediatric Neurology
|January 20, 2026
PubMed

Insights

Transport protein particle complex 11 (TRAPPC11)-related disease presents with diverse symptoms beyond muscle weakness. This study highlights significant phenotypic variability even among siblings with the same TRAPPC11 mutation.

Area of Science:

  • Genetics
  • Neurology
  • Rare Diseases

Background:

  • TRAPPC11-related disease is an autosomal recessive disorder with multisystemic involvement.
  • Key features include poor growth, developmental delays, intellectual disability, microcephaly, ophthalmic issues, and movement disorders.
  • Elevated serum creatine kinase is typical for the c.1278+5G > A variant.

Purpose of the Study:

  • To characterize the clinical presentation of TRAPPC11-related disease in three siblings.
  • To investigate the phenotypic variability associated with the c.1287+5G > A variant.

Main Methods:

  • Clinical characterization of three siblings from a Roma family.
  • Genetic analysis confirmed a homozygous c.1287+5G > A variant in all affected individuals.

Main Results:

  • Siblings presented with microcephaly, intellectual delay, and psychomotor regression.
  • Ataxia was a consistent finding, varying in severity.
  • No muscular dystrophy signs were observed; phenotypic variability was notable, with the youngest sibling showing a milder form.

Conclusions:

  • TRAPPC11-related disorders (TRAPPopathies) exhibit complex presentations and significant phenotypic diversity.
  • The specific TRAPPC11 variant influences disease manifestation.
  • Recognizing phenotypic variability is crucial for understanding and managing this genetic disorder.
Abstract

Keywords:
AtaxiaEncephalopathyIntellectual disabilityMovement disorderRoma originTRAPCC11TRAPPopathies

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