Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.
Clin Genet
; 96(4): 354-358, 2019 10.
Article
en En
| MEDLINE
| ID: mdl-31290144
ABSTRACT
TTI2 (MIM 614126) has been described as responsible for autosomal recessive intellectual disability (ID; MRT39, MIM615541) 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.
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Variación Genética
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Predisposición Genética a la Enfermedad
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Péptidos y Proteínas de Señalización Intracelular
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Estudios de Asociación Genética
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Genes Recesivos
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Discapacidad Intelectual
Tipo de estudio:
Diagnostic_studies
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Prognostic_studies
Límite:
Adolescent
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Child
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Female
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Humans
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Infant
Idioma:
En
Revista:
Clin Genet
Año:
2019
Tipo del documento:
Article
País de afiliación:
Francia