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. 2022 Aug;188(8):2331-2338.
doi: 10.1002/ajmg.a.62866. Epub 2022 Jun 10.

Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita

Mathilde Weber  1   2 , Dana Jaber  3 , Ferechte Encha-Razavi  1 , Emmanuel Julien  4 , Julie Grevoul-Fesquet  5 , Julie Steffann  6 , Judith Melki  3 , Jelena Martinovic  1   3
Affiliations

Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita

Mathilde Weber et al. Am J Med Genet A. 2022 Aug.

Abstract

The recent finding that some patients with fetal akinesia deformation sequence (FADS) carry variants in the TUBB2B gene has prompted us to add to the existing literature a first description of two fetal FADS cases carrying TUBA1A variants. Hitherto, only isolated cortical malformations have been described with TUBA1A mutation, including microlissencephaly, lissencephaly, central pachygyria and polymicrogyria-like cortical dysplasia, generalized polymicrogyria cortical dysplasia, and/or the "simplified" gyral pattern. The neuropathology of our fetal cases shows several common features of tubulinopathies, in particular, the dysmorphism of the basal ganglia, as the most pathognomonic sign. The cortical ribbon anomalies were extremely severe and concordant with the complex cortical malformation. In conclusion, we broaden the phenotypic spectrum of TUBA1A variants, to include FADS.

Keywords: TUBA1A; arthrogryposis; brain malformation; microlissencephaly; prenatal diagnosis; tubulinopathy.

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References

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