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De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.

Am J Med Genet A. 2017 Oct;173(10):2725-2730. doi:10.1002/ajmg.a.38352. Epub 2017 Aug 25
Resham Ejaz 1 , Anath C Lionel 2 , Susan Blaser 3 , Susan Walker 2 , Stephen W Scherer 4 , Riyana Babul-Hirji 1 , Christian R Marshall 5 , Dimitri J Stavropoulos 5 , David Chitayat 6
Resham Ejaz 1 , Anath C Lionel 2 , Susan Blaser 3 , Susan Walker 2 , Stephen W Scherer 4 , Riyana Babul-Hirji 1 , Christian R Marshall 5 , Dimitri J Stavropoulos 5 , David Chitayat 6
+ et al

[No authors listed]

Author information
  • 1 Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • 2 The Centre for Applied Genomics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • 3 Division of Neuroradiology, Department of Diagnostic Imaging, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • 4 McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • 5 Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • 6 The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

摘要

Disorders of brain formation can occur from pathogenic variants in various alpha and beta tubulin genes. Heterozygous pathogenic variants in the beta tubulin isotype A gene, TUBB2A, have been recently implicated in brain malformations, seizures, and developmental delay. Limited information is known regarding the phenotypic spectrum associated with pathogenic variants in this gene given the rarity of the condition. We report the sixth individual with a de novo heterozygous TUBB2A pathogenic variant, who presented with a severe neurological phenotype along with unique features of arthrogryposis multiplex congenita, optic nerve hypoplasia, dysmorphic facial features, and vocal cord paralysis, thereby expanding the gene-related phenotype.

KEYWORDS: TUBB2A, contractures, cortical malformation, optic nerve hypoplasia, tubulinopathy

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