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Case Reports
. 2023 Dec;33(12):978-982.
doi: 10.1016/j.nmd.2023.09.009. Epub 2023 Oct 5.

Muscular phenotype description of abnormal THOC2 splicing

Charlotte Dubucs  1 , John Rendu  2 , Laurence Michel-Calemard  3 , Rita Menassa  3 , Maud Langeois  4 , Yvan Nicaise  5 , Jessie Ousselin  6 , Jacqueline Aziza  6 , Emmanuelle Uro-Coste  6
Affiliations
Case Reports

Muscular phenotype description of abnormal THOC2 splicing

Charlotte Dubucs et al. Neuromuscul Disord. 2023 Dec.

Abstract

Until recently, the disease known to be associated with THOC2 mutations was Intellectual developmental disorder, X-linked 12 (MIM300957). However, recently, fetal arthrogryposis multiplex congenita has been associated with a specific splice site mutation in the THOC2 gene. We report a family with the same splice site mutation in the THOC2 gene involved in fetal arthrogryposis as well. We provide the first description of the muscular phenotype of this disease which reveals the presence of cytoplasmic bodies. Our findings expand the clinical phenotype of THOC2 gene related defects.

Keywords: Cytoplasmic body; Fetal arthrogryposis; Myopathy; THOC2 mutation.

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Conflict of interest statement

Declaration of Competing Interest The authors declare that they have no competing interests.

References

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