Mutations in GDI1 are responsible for X-linked non-specific mental retardation

Patrizia D'Adamo, Andrea Menegon, Cristiana Lo Nigro, Marina Grasso, Massimo Gulisano, Filippo Tamanini, Thierry Bienvenu, Agi K. Gedeon, Ben Oostra, Shih Kwang Wu, Anurag Tandon, Flavia Valtorta, William E. Balch, Jamel Chelly, Daniela Toniolo

Research output: Contribution to journalArticlepeer-review

Abstract

Rab GDP-dissociation inhibitors (GDI) are evolutionarily conserved proteins that play an essential role in the recycling of Rab GTPases required for vesicular transport through the secretory pathway. We have found mutations in the GDI1 gene (which encodes αGDI) in two families affected with X-linked non-specific mental retardation. One of the mutations caused a non-conservative substitution (L92P) which reduced binding and recycling of RAB3A, the second was a null mutation. Our results show that both functional and developmental alterations in the neuron may account for the severe impairment of learning abilities as a consequence of mutations in GDI1, emphasizing its critical role in development of human intellectual and learning abilities.

Original languageEnglish
Pages (from-to)134-139
Number of pages6
JournalNature Genetics
Volume19
Issue number2
DOIs
Publication statusPublished - 1998

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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