A Novel Mutation in PEX11β Gene.

Area of Science:

• Genetics
• Molecular Biology
• Neurology

Background:

• Peroxisomal biogenesis disorders (PBDs) are a group of rare genetic diseases.
• Mutations in the PEX11β gene are associated with an extremely rare subgroup of PBDs, with limited cases reported.
• Understanding the genetic basis and clinical spectrum of PBDs is crucial for diagnosis and management.

Observation:

• A patient presented with episodic migraine-like attacks, delirium, mood and behavior changes, polyneuropathy, and congenital cataract.
• Whole exome sequencing identified a novel c.743_744delTCinsA mutation in exon 4 of the PEX11β gene.
• The patient exhibited milder clinical features compared to previously reported cases.

Findings:

• A novel mutation in the PEX11β gene (c.743_744delTCinsA) was identified in a patient with PBDs.
• The identified mutation expands the known clinical phenotype associated with PEX11β mutations.
• This case presents with a milder phenotype than previously documented.

Implications:

• This study contributes to a broader understanding of the PEX11β-related peroxisomal biogenesis disorder.
• Identifying novel mutation variants improves genotype-phenotype correlations for PEX11β mutations.
• Enhanced clinical clues can aid in earlier diagnosis and better management of this rare syndrome.