An unusual phenotype in a case of Sheldon-Hall syndrome

Sheldon-Hall syndrome (SHS) is an ultra-rare genetic disease usually characterised by congenital arthrogryposis of autosomal dominantEn génétique, c’est la caractéristique d’un individu qui n’a besoin que d’un seul exemplaire d’un certain gène (allèle) pour s’exprimer. Cet exemplaire unique peut venir du père ou de la mère. transmission. Researchers at the neuromuscular reference centre at the Hôpital Raymond Poincaré in Garches have identified a patient with SHS presenting with :

• a whole-body muscle imaging study showed no signs of primary muscle involvement,
• on the other hand, the electromyography results were clearly in favour of neurogenic damage,
• the genetic study revealed a mutationModification soudaine et transmissible du matériel génétique. Elle peut être spontanée ou induite par des agents dits » mutagènes » (radiations, produits toxiques,…). in the TNNT3 gene already known to give SHS.

This work contributes to a better phenotypic description of arthrogryposis syndromes.

Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant. Dabaj I, Carlier RY, Dieterich K et al. Front Genet. 2023 Mars.