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A Novel Mutation in PEX11β Gene.

ABSTRACT: PEX11β ([OMIM] 614920) mutation causes an extremely rare subgroup of peroxisomal biogenesis disorders, with only six cases reported to date. In this article, we reported a patient with episodic migraine-like attacks, delirium, mood and behavior change, polyneuropathy, and history of congenital cataract. Whole exome sequencing showed novel c.743_744delTCinsA mutation in the exon 4 of the PEX11β gene. In contrast to previously reported patients, our case presented milder features and extended the spectrum of the clinical phenotype of this mutation. This study helps to extend the phenotype of this syndrome; besides, recognizing novel mutation variants will provide a better genotype-phenotype correlation and improve clinical clues.

SUBMITTER: Malekzadeh H

PROVIDER: S-EPMC7856433 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

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A Novel Mutation in PEX11β Gene.

Malekzadeh Hamid H Shakiba Marjan M Yasaei Mehrdad M

Iranian journal of child neurology 20210101 1

PEX11β ([OMIM] 614920) mutation causes an extremely rare subgroup of peroxisomal biogenesis disorders, with only six cases reported to date. In this article, we reported a patient with episodic migraine-like attacks, delirium, mood and behavior change, polyneuropathy, and history of congenital cataract. Whole exome sequencing showed novel c.743_744delTCinsA mutation in the exon 4 of the PEX11β gene. In contrast to previously reported patients, our case presented milder features and extended the ...[more]

PMID: 33558817

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