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Article

TUBB3 M323V Syndrome Presents with Infantile Nystagmus.

Genes - 15 Apr 2021

Jin Soohwa, Park Sung-Eun, Won Dongju, Lee Seung-Tae, Han Sueng-Han, Han Jinu

Abstract excerpt

Variants in the TUBB3 gene, one of the tubulin-encoding genes, are known to cause congenital fibrosis of the extraocular muscles type 3 and/or malformations of cortical development. Herein, we report a case of a 6-month-old infant with c.967A>G:p.(M323V) variant in the TUBB3 gene, who had only infantile nystagmus without other ophthalmological abnormalities. Subsequent brain magnetic resonance imaging (MRI)...

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Identifiers

PMID: 33921132
DOI: 10.3390/genes12040575
PMCID: PMC8071555

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