biostudies-literatureUnknown188(9)Musante LNational Institute for Health Research (NIHR)Biallelic mutations in the TTC5 gene have been associated with autosomal recessive intellectual disability (ARID) and subsequently with an ID syndrome including severe speech impairment, cerebral atrophy, and hypotonia as clinical cornerstones. A TTC5 role in IDs has been proposed based on the physical interaction of TTC5 with p300, and possibly reducing p300 co-activator complex activity, similarly to what was observed in Menke-Hennekam 1 and 2 patients (MKHK1 and 2) carrying, respectively, mutations in exon 30 and 31 of CREBBP and EP300, which code for the TTC5-binding region. Recently, TTC5-related brain malformation has been linked to tubulinopathies due to the function of TTC5 in tubulins' dynamics. We reported seven new patients with novel or recurrent TTC5 variants. The deep charactAmerican journal of medical genetics. Part A2652-2665https://www.ebi.ac.uk/biostudies/studies/S-EPMC9541101biostudies-literatureTTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.PMC9541101Musante LNajarzadeh Torbati PMurru FMAshrafzadeh FGhayoor Karimiani EGirotto GCarrozzi MGartner JBlair EMurphy DBeiraghi Toosi MFaletra FLa Bianca MGasparini PCosta PZanus CTomoum HNorth SFeresin AMagnolato ADiegmann SMeier KfalseTTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.Biallelic mutations in the TTC5 gene have been associated with autosomal recessive intellectual disability (ARID) and subsequently with an ID syndrome including severe speech impairment, cerebral atrophy, and hypotonia as clinical cornerstones. A TTC5 role in IDs has been proposed based on the physical interaction of TTC5 with p300, and possibly reducing p300 co-activator complex activity, similarly to what was observed in Menke-Hennekam 1 and 2 patients (MKHK1 and 2) carrying, respectively, mutations in exon 30 and 31 of CREBBP and EP300, which code for the TTC5-binding region. Recently, TTC5-related brain malformation has been linked to tubulinopathies due to the function of TTC5 in tubulins' dynamics. We reported seven new patients with novel or recurrent TTC5 variants. The deep charact2022-01-01T00:00:00Z2022 Sep2026-04-08T11:54:23.011Z2024-11-19T20:03:20.269ZS-EPMC95411013567037910.1002/ajmg.a.62852