Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.
TTI2
premature ovarian failure
recessive intellectual disability
triple T complex
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
10 2019
10 2019
Historique:
received:
07
05
2019
revised:
21
06
2019
accepted:
30
06
2019
pubmed:
11
7
2019
medline:
4
9
2020
entrez:
11
7
2019
Statut:
ppublish
Résumé
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.
Substances chimiques
Intracellular Signaling Peptides and Proteins
0
TTI2 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
354-358Informations de copyright
© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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