Article
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
American journal of medical genetics. Part A - 1 Sept 2022
Musante Luciana, Faletra Flavio, Meier Kolja, Tomoum Hoda, Najarzadeh Torbati Paria, Blair Edward, North Sally, Gärtner Jutta, Diegmann Susann, Beiraghi Toosi Mehran, Ashrafzadeh Farah, Ghayoor Karimiani Ehsan, Murphy David, Murru Flora Maria, Zanus Caterina, Magnolato Andrea, La Bianca Martina, Feresin Agnese, Girotto Giorgia, Gasparini Paolo, Costa Paola, Carrozzi Marco
Abstract excerpt
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...
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