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Article dans une revue

Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability

Abstract :

TTI2 (MIM 614126) has been described as responsible for autosomal recessive intellectual disability (ID; MRT39, MIM:615541) in only two inbred families. Here, we give an account of two individuals from two unrelated outbred families harbouring compound heterozygous TTI2 pathogenic variants. Together with severe ID, progressive microcephaly, scoliosis and sleeping disorder are the most striking features in the two individuals concerned. TTI2, together with TTI1 and TELO2, encode proteins that constitute the triple T heterotrimeric complex. This TTT complex interacts with the HSP90 and R2TP to form a super-complex that has a chaperone function stabilising and maturing a number of kinases, such as ataxia-telangiectasia mutated and mechanistic target of rapamycin, which are key regulators of cell proliferation and genome maintenance. Pathogenic variants in TTI2 logically result in a phenotype close to that caused by TELO2 variants.

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Article dans une revue
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https://hal.univ-angers.fr/hal-02616938
Contributeur : Okina Université d'Angers <>
Soumis le : lundi 25 mai 2020 - 04:41:37
Dernière modification le : mardi 26 mai 2020 - 03:48:30

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Alban Ziegler, Patricia Bader, Kirsty Mcwalter, Ganka Douglas, Clara Houdayer, et al.. Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability. Clinical genetics, 2019, 96 (4), pp.354-358. ⟨10.1111/cge.13603⟩. ⟨hal-02616938⟩

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